IGDB.NSCLC Gene View
 
Gene Information        (help)
Gene NF1 Ensembl ENSG00000196712 Chromosome 17 Start 26446121 End 26728817
Description Neurofibromin (Neurofibromatosis-related protein NF-1) [Contains Neurofibromin truncated] [Source:UniProtKB/Swiss-Prot;Acc:P21359]
GENE RESOURCES :NUCLEOTIDE SEQUENCES :PROTEIN RESOURCES :CLINICAL RESOURCES :REFERENCES :
     HGNC : 7765
     Entrez Gene : 4763
     UCSC : uc002hgg.2
     GeneCards : 7765
     RefSeq : NM_000267
     CCDS : CCDS11264.1
     Uniprot : P21359
     Interpro : P21359
     OMIM : 613113
     GeneTests : NF1
     CGAP : NF1
     PMID : 1715669

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Somatic Mutaions        (help)
Lung cancer Adenocarcinoma Squamous Cell Carcinoma
Unique Mutated Samples % Mutated Total Unique
Samples
Unique Mutated
Samples
% Mutated Total Unique
Samples
Unique Mutated
Samples
% Mutated Total Unique
Samples
15 4.41 340 13 6.25 208 0 0.00 7
Sample datas
Sample Name Histology Subtype DNA Mutation Protein Mutation Mutation Description Zygosity Genomic Co-ordinates NCBI36 Pubmed
16630 AD c.1642-1G>T p.? Unknown Heterozygous 17:26572993-2657299318948947
16686 AD c.2425C>T p.H809Y Substitution - Missense Heterozygous 17:26580184-2658018418948947
16686 AD c.1260+2T>G p.? Unknown Heterozygous 17:26552631-2655263118948947
16835 AD c.3975-2A>G p.? Unknown Heterozygous 17:26600126-2660012618948947
16905 AD c.5645G>T p.C1882F Substitution - Missense Heterozygous 17:26681475-2668147518948947
16947 AD c.1642-2A>T p.? Unknown Heterozygous 17:26572992-2657299218948947
16973 AD c.1721G>C p.S574T Substitution - Missense Heterozygous 17:26573073-2657307318948947
16973 AD c.3592G>T p.E1198* Substitution - Nonsense Heterozygous 17:26584241-2658424118948947
17174 AD c.2505G>C p.Q835H Substitution - Missense Heterozygous 17:26580264-2658026418948947
17210 AD c.2765G>T p.G922V Substitution - Missense Heterozygous 17:26580524-2658052418948947
17218 AD c.3375_3376delGC p.Q1126fs*68 Deletion - Frameshift Heterozygous 17:26583904-2658390518948947
17242 AD c.487G>T p.E163* Substitution - Nonsense Heterozygous 17:26521042-2652104218948947
17330 AD c.1549G>T p.E517* Substitution - Nonsense Heterozygous 17:26570170-2657017018948947
17750 AD c.3544G>T p.V1182F Substitution - Missense Heterozygous 17:26584193-2658419318948947
17784 AD c.7896_7897TG>GT p.D2632E Substitution - Missense Heterozygous 17:26708439-2670844018948947
17784 AD c.3198-1G>C p.? Unknown Heterozygous 17:26583216-2658321618948947

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Microarray Gene Expression Fold Change Result        (help)
( red: up-regulation / green : down-regulation when p value < 0.01)
( gray background : these probesets might have mapping problems. ref 1, ref 2)
Chip Type Probeset Adenocarcinoma Squamous Cell Carcinoma
Fold Change p value q value Fold Change p value q value
 HG_U95  1236_s_at  0.52  1.02e-2  2.37e-2  0.70  1.91e-2  4.04e-2
 HG_U95  35328_at  0.18  7.07e-2  1.24e-1  0.43  3.32e-4  1.16e-3
 HG_U95  38289_r_at  0.29  2.81e-1  3.84e-1  -0.53  1.89e-1  2.78e-1
 HG_U95  739_at  -0.33  1.66e-1  2.52e-1  -0.50  9.98e-2  1.64e-1
 HG_U95  940_g_at  0.41  5.38e-5  2.35e-4  0.31  1.35e-2  3.00e-2
 HG_U95  961_at  -0.02  9.33e-1  9.51e-1  0.01  9.73e-1  9.83e-1
 HG_U133A  204323_x_at  -0.11  7.20e-2  9.70e-2  -1.13  1.15e-25  1.81e-25
 HG_U133A  204325_s_at  -0.02  7.33e-1  7.70e-1  -1.52  1.00e-15  1.37e-15
 HG_U133A  210631_at  -0.23  1.01e-1  1.32e-1  3.44  4.95e-55  1.22e-54
 HG_U133A  211094_s_at  0.46  2.12e-3  3.67e-3  -0.24  1.58e-1  1.65e-1
 HG_U133A  211095_at  0.44  4.31e-5  9.38e-5  1.19  1.88e-17  2.63e-17
 HG_U133A  211914_x_at  0.23  4.21e-2  5.93e-2  7.31  1.01e-167  7.46e-166
 HG_U133A  212676_at  0.93  1.59e-43  5.45e-42  1.98  9.61e-82  4.06e-81
 HG_U133A  212678_at  0.24  6.72e-7  1.76e-6  2.49  3.85e-119  4.55e-118
 HG_U133A  216115_at  0.31  3.71e-4  7.17e-4  -1.85  1.53e-34  2.73e-34
 HG_U133_Plus2  204323_x_at  0.35  6.08e-4  1.65e-3  0.37  1.72e-4  3.72e-4
 HG_U133_Plus2  204325_s_at  0.78  2.17e-8  1.27e-7  0.72  3.71e-6  1.01e-5
 HG_U133_Plus2  210631_at  -0.61  1.03e-3  2.67e-3  -0.94  9.72e-6  2.50e-5
 HG_U133_Plus2  211094_s_at  0.40  2.29e-2  4.24e-2  0.23  1.84e-1  2.33e-1
 HG_U133_Plus2  211095_at  0.23  1.48e-1  2.14e-1  0.37  3.27e-2  4.85e-2
 HG_U133_Plus2  211914_x_at  -0.18  4.03e-1  4.94e-1  -0.74  8.13e-4  1.59e-3
 HG_U133_Plus2  212676_at  0.48  2.07e-12  2.04e-11  0.26  8.78e-3  1.45e-2
 HG_U133_Plus2  212678_at  0.50  5.08e-11  4.19e-10  0.53  2.68e-6  7.42e-6
 HG_U133_Plus2  216115_at  0.37  3.49e-3  7.99e-3  0.19  1.07e-1  1.43e-1
 HG_U133_Plus2  243476_at  0.03  8.42e-1  8.82e-1  0.24  9.94e-2  1.34e-1
 Agilent_HS_21.6K  1081  0.07  1.83e-1  3.53e-1  0.05  3.96e-1  5.56e-1
 Agilent_HS_21.6K  18818  0.08  4.59e-2  1.37e-1  0.07  6.28e-2  1.47e-1

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Adjuvant Cisplatin/vinorelbine Treatment vs Observation Result        (help) (Pubmed)
( red: up-regulation / green : down-regulation when p value < 0.01)
( gray background color : the mapping problems of probeset. ref_1, ref_2)
Chip Type Probeset Adenocarcinoma Squamous Cell Carcinoma
Fold Change p value q value Fold Change p value q value
 HG_U133A  204323_x_at  -0.07  7.92e-1  9.82e-1  -0.01  9.12e-1  1.00e+0
 HG_U133A  204325_s_at  -0.11  6.55e-1  9.61e-1  -0.12  4.69e-1  1.00e+0
 HG_U133A  210631_at  -0.26  6.29e-1  9.57e-1  0.19  5.51e-1  1.00e+0
 HG_U133A  211094_s_at  -0.45  3.64e-1  8.95e-1  0.01  9.65e-1  1.00e+0
 HG_U133A  211095_at  -0.05  8.90e-1  9.93e-1  -0.15  6.08e-1  1.00e+0
 HG_U133A  211914_x_at  -0.10  8.20e-1  9.84e-1  0.26  3.01e-1  1.00e+0
 HG_U133A  212676_at  -0.07  8.26e-1  9.85e-1  0.02  9.32e-1  1.00e+0
 HG_U133A  212678_at  -0.40  1.14e-1  7.82e-1  -0.11  5.27e-1  1.00e+0
 HG_U133A  216115_at  -0.10  6.96e-1  9.68e-1  -0.06  7.37e-1  1.00e+0

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Microarray Sample Data        (help)
( The log2 value of tumor samples )
(Average : Average log2 value from Normal Samples.)
        HG_U95 - 1236_s_at    (back)       Save as a PNG file. Save as a PDF file. Save as a PS file.
Gene expression figure

        HG_U95 - 35328_at    (back)       Save as a PNG file. Save as a PDF file. Save as a PS file.
Gene expression figure

        HG_U95 - 38289_r_at    (back)       Save as a PNG file. Save as a PDF file. Save as a PS file.
Gene expression figure

        HG_U95 - 739_at    (back)       Save as a PNG file. Save as a PDF file. Save as a PS file.
Gene expression figure

        HG_U95 - 940_g_at    (back)       Save as a PNG file. Save as a PDF file. Save as a PS file.
Gene expression figure

        HG_U95 - 961_at    (back)       Save as a PNG file. Save as a PDF file. Save as a PS file.
Gene expression figure

        HG_U133A - 204323_x_at    (back)       Save as a PNG file. Save as a PDF file. Save as a PS file.
Gene expression figure

        HG_U133A - 204325_s_at    (back)       Save as a PNG file. Save as a PDF file. Save as a PS file.
Gene expression figure

        HG_U133A - 210631_at    (back)       Save as a PNG file. Save as a PDF file. Save as a PS file.
Gene expression figure

        HG_U133A - 211094_s_at    (back)       Save as a PNG file. Save as a PDF file. Save as a PS file.
Gene expression figure

        HG_U133A - 211095_at    (back)       Save as a PNG file. Save as a PDF file. Save as a PS file.
Gene expression figure

        HG_U133A - 211914_x_at    (back)       Save as a PNG file. Save as a PDF file. Save as a PS file.
Gene expression figure

        HG_U133A - 212676_at    (back)       Save as a PNG file. Save as a PDF file. Save as a PS file.
Gene expression figure

        HG_U133A - 212678_at    (back)       Save as a PNG file. Save as a PDF file. Save as a PS file.
Gene expression figure

        HG_U133A - 216115_at    (back)       Save as a PNG file. Save as a PDF file. Save as a PS file.
Gene expression figure

        HG_U133_Plus2 - 204323_x_at    (back)       Save as a PNG file. Save as a PDF file. Save as a PS file.
Gene expression figure

        HG_U133_Plus2 - 204325_s_at    (back)       Save as a PNG file. Save as a PDF file. Save as a PS file.
Gene expression figure

        HG_U133_Plus2 - 210631_at    (back)       Save as a PNG file. Save as a PDF file. Save as a PS file.
Gene expression figure

        HG_U133_Plus2 - 211094_s_at    (back)       Save as a PNG file. Save as a PDF file. Save as a PS file.
Gene expression figure

        HG_U133_Plus2 - 211095_at    (back)       Save as a PNG file. Save as a PDF file. Save as a PS file.
Gene expression figure

        HG_U133_Plus2 - 211914_x_at    (back)       Save as a PNG file. Save as a PDF file. Save as a PS file.
Gene expression figure

        HG_U133_Plus2 - 212676_at    (back)       Save as a PNG file. Save as a PDF file. Save as a PS file.
Gene expression figure

        HG_U133_Plus2 - 212678_at    (back)       Save as a PNG file. Save as a PDF file. Save as a PS file.
Gene expression figure

        HG_U133_Plus2 - 216115_at    (back)       Save as a PNG file. Save as a PDF file. Save as a PS file.
Gene expression figure

        HG_U133_Plus2 - 243476_at    (back)       Save as a PNG file. Save as a PDF file. Save as a PS file.
Gene expression figure

        Agilent_HS_21.6K - 1081    (back)       Save as a PNG file. Save as a PDF file. Save as a PS file.
Gene expression figure

        Agilent_HS_21.6K - 18818    (back)       Save as a PNG file. Save as a PDF file. Save as a PS file.
Gene expression figure

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Cancer Gene Index        (help)

If 0 entry was found, please remove the search key "lung cancer".
Keyword DiseaseData Statement PubMed Organism
nf1 nervous system tumors Neurofibromatosis type 1 (NF1) is a dominant genetic disorder characterized by multiple benign and malignant nervous system tumors, and by learning defects in 45% of children with NF1 mutations. 11788835 Human
nf1 neurofibromatosis 1 NF1 mutations in neurofibromatosis 1 patients with plexiform neurofibromas. 11857752 Human
nf1 neurofibroma It was detectable in all of the human tumor tissues tested (NF1 neurofibroma, sporadic intramedullar neurinoma, sporadic meningiomas, NF2 schwannoma, NF2 meningioma, basalioma, and naevus) as well as in cultured tumor cell lines and cultured primary cells 11888927 Human
nf1 tumor It was detectable in all of the human tumor tissues tested (NF1 neurofibroma, sporadic intramedullar neurinoma, sporadic meningiomas, NF2 schwannoma, NF2 meningioma, basalioma, and naevus) as well as in cultured tumor cell lines and cultured primary cells 11888927 Human
nf1 tumor In three tumor tissues tested for one NF1 exon, we found approximately twice the amount of aberrant transcript as in normal tissues. 11888927 Human
nf1 tumors To better understand the relationship between NF1 and composite pheochromocytoma, an immunohistochemical study using anti-neuro-fibromin that is an NF1 gene product and DNA sequence of NF1 Exon 31 were carried out in five cases of composite pheochromocyto 11904334 Human
neurofibromin neurofibroma Neurofibromin was not expressed in Schwann cells and sustentacular cells of composite pheochromocytomas and was very weakly or negatively expressed in neurofibroma of NF1 patients. 11904334 Human
neurofibromin neurofibromatosis Neurofibromin insufficiency may induce abnormal proliferation of Schwann cells in composite pheochromocytomas as well as in neurofibromatosis. 11904334 Human
nf1 neurofibromatosis type 1 Neurofibromatosis type 1 (NF1) is a common autosomal dominant genetic disorder that is caused by a mutation in the NF1 gene. 11910511 Human
nf1 neurofibromatosis type 1 The gene for neurofibromatosis type 1 (NF1), mapping to 17q11.2, has one of the highest observed mutation rates, partially because of its large size and gene conversion primed by NF1 pseudogenes. 11941479 Human
nf1 tumors Through use of a conditional (cre/lox) allele, we show that loss of NF1 in the Schwann cell lineage is sufficient to generate tumors. 11988578 Human
nf1 regional cancer METHODS: NF1 patients with MPNST were ascertained from two sources for our north west England population of 4.1 million in the 13 year period 1984-1996: the North West Regional NF1 Register and review of notes of patients with MPNST in the North West Regi 12011145 Human
nf1 neurofibroma These data are in line with the concept that NF1 mutations in Schwann cells, but not in fibroblasts, correlate with neurofibroma formation. 12077526 Human
nf1 neurofibromatosis 1 Astrocyte-specific inactivation of the neurofibromatosis 1 gene (NF1) is insufficient for astrocytoma formation. 12077339 Human
nf1 astrocytoma Astrocyte-specific inactivation of the neurofibromatosis 1 gene (NF1) is insufficient for astrocytoma formation. 12077339 Human
nf1 tumor syndrome Individuals with the neurofibromatosis 1 (NF1) inherited tumor syndrome develop low-grade gliomas (astrocytomas) at an increased frequency, suggesting that the NF1 gene is a critical growth regulator for astrocytes. 12077339 Human
nf1 astrocytoma In an effort to determine the contribution of the NF1 gene product, neurofibromin, to astrocyte growth regulation and NF1-associated astrocytoma formation, we generated astrocyte-specific Nf1 conditional knockout mice (Nf1(GFAP)CKO) by using Cre/LoxP tech 12077339 Mouse
nf1 tumors Nf1 null astrocytes exhibited increased proliferation but lacked tumorigenic properties in vitro and did not form tumors when injected into immunocompromised mouse brains in vivo. 12077339 Mouse
neurofibromin astrocytoma Collectively, our results suggest that loss of neurofibromin is not sufficient for astrocytoma formation in mice and that other genetic or environmental factors might influence NF1-associated glioma tumorigenesis. 12077339 Mouse
neurofibromin glioma Collectively, our results suggest that loss of neurofibromin is not sufficient for astrocytoma formation in mice and that other genetic or environmental factors might influence NF1-associated glioma tumorigenesis. 12077339 Mouse
nf1 spinal neurofibromatosis Linkage analysis in two families and identification of a NF1 gene mutation in a third family strongly associate spinal neurofibromatosis with the NF1 gene. 12082509 Human
nf1 spinal neurofibromatosis The involvement of other genes linked to the NF1 gene or modifying genes is currently the most likely explanation for the clinical phenotype of spinal neurofibromatosis. 12082509 Human
nf1 malignant tumors The development of traditional homozygous knockout mice has provided insights into the roles of the NF1 and NF2 genes during development and in differentiation, but has been less instructive regarding the contribution of NF1 and NF2 dysfunction to the pat 12082543 Mouse
nf1 tumors Recent progress employing novel mouse targeting strategies has begun to illuminate the roles of the NF1 and NF2 gene products in the molecular pathogenesis of NF-associated tumors. 12082543 Mouse
nf1 transitional cell carcinomas Kinetic profiles by topographic compartments in muscle-invasive transitional cell carcinomas of the bladder: role of TP53 and NF1 genes. 12109862 Human
nf1 neurofibromatosis type 1 Some hereditary phaeochromocytomas may be associated with germline mutations in VHL, RET and NF1 genes in genetic disorders such as von Hippel-Lindau disease (VHL), multiple endocrine neoplasia type 2 (MEN 2) and neurofibromatosis type 1 (NF 1), respectiv 12111639 Human
nf1 tumor Unexpectedly, the loss of one allele of NF1 did not greatly shorten the time to tumor formation in a p19(ARF) null background. 12118376 Mouse
nf1 neurofibroma Deletion of both copies of the Nf1 gene in Schwann cells combined with Nf1 heterozygosity in the tumor environment promotes neurofibroma formation in mice. 12124168 Mouse
nf1 spindle cell neoplasms Differential NF1, p16, and EGFR patterns by interphase cytogenetics (FISH) in malignant peripheral nerve sheath tumor (MPNST) and morphologically similar spindle cell neoplasms. 12152785 Human
nf1 sarcomas NF1 losses were encountered more frequently in MPNSTs versus other sarcomas (p < 0.001), as were p16 homozygous deletions (45% vs 0%; p < 0.001), EGFR amplifications (26% vs 0%; p = 0.006), and polysomies for either chromosomes 7 (53% vs 12%; p = 0.003) o 12152785 Human
nf1 malignant tumors The human disease neurofibromatosis type 1 (NF1) is caused by mutations in the NF1 gene, and is characterized by the formation of benign and malignant tumors of the peripheral nervous system. 12154062 Human
nf1 mouse tumor One recent approach taken to investigate the changes associated with NF1 tumor formation is the development of the Nf1:p53 mouse tumor model. 12154062 Mouse
nf1 tumor One recent approach taken to investigate the changes associated with NF1 tumor formation is the development of the Nf1:p53 mouse tumor model. 12154062 Mouse
nf1 tumors Thus, Ahi-1 may play an important role in signal transduction in normal cells and may be involved in tumor development, possibly in cooperation with other oncogenes (such as v-abl and c-myc) or with a tumor suppressor gene (Nf1), since Ahi-1 insertion sit 12186888 Human
nf1 tumor Thus, Ahi-1 may play an important role in signal transduction in normal cells and may be involved in tumor development, possibly in cooperation with other oncogenes (such as v-abl and c-myc) or with a tumor suppressor gene (Nf1), since Ahi-1 insertion sit 12186888 Human
nf1 carcinomas Analysis of chromosome 17 DNA markers in the five family members tested show that three individuals affected by both NF1 and carcinomas share a common haplotype including the NF1 and BRCA1 loci on chromosome 17. 12217765 Human
neurofibromin neurofibromatosis type 1 The likely source for increased p21-ras activity in sporadically occurring astrocytomas is overexpressed or constitutively activated growth factor receptors, whereas in neurofibromatosis Type 1 (NF1)-associated astrocytomas, the source is a loss of expres 12296648 Human
neurofibromin malignant peripheral-nerve-sheath tumors The second type of tumor associated with aberrant G protein signaling includes sporadic and NF1-associated neurofibromas and malignant peripheral nerve sheath tumors, which also have increased p21-ras activity due to a loss of neurofibromin expression. 12296648 Human
neurofibromin tumor The second type of tumor associated with aberrant G protein signaling includes sporadic and NF1-associated neurofibromas and malignant peripheral nerve sheath tumors, which also have increased p21-ras activity due to a loss of neurofibromin expression. 12296648 Human
neurofibromin neurofibromatosis The motor protein kinesin-1 links neurofibromin and merlin in a common cellular pathway of neurofibromatosis. 12191989 Human
neurofibromin malignant tumors Mutations in either of the two tumor suppressor genes NF1 (neurofibromin) and NF2 (merlin) result in Neurofibromatosis, a condition predisposing individuals to developing a variety of benign and malignant tumors of the central and peripheral nervous syste 12191989 Human
nf1 malignant tumors Mutations in either of the two tumor suppressor genes NF1 (neurofibromin) and NF2 (merlin) result in Neurofibromatosis, a condition predisposing individuals to developing a variety of benign and malignant tumors of the central and peripheral nervous syste 12191989 Human
neurofibromin neurofibromatosis Mutations in either of the two tumor suppressor genes NF1 (neurofibromin) and NF2 (merlin) result in Neurofibromatosis, a condition predisposing individuals to developing a variety of benign and malignant tumors of the central and peripheral nervous syste 12191989 Human
nf1 neurofibromatosis Mutations in either of the two tumor suppressor genes NF1 (neurofibromin) and NF2 (merlin) result in Neurofibromatosis, a condition predisposing individuals to developing a variety of benign and malignant tumors of the central and peripheral nervous syste 12191989 Human
nf1 tumor Mutational and expression analysis of the NF1 gene argues against a role as tumor suppressor in sporadic pilocytic astrocytomas. 12387455 Human
nf1 tumor Several lines of evidence support the notion that the NF1 gene functions as tumor suppressor in these pilocytic astrocytomas and therefore it is tempting to hypothesize that the NF1 gene plays a similar role in sporadic pilocytic astrocytomas. 12387455 Human
nf1 neurofibromatosis 1 Neurofibromatosis 1 is a progressive autosomal dominant condition caused by mutations in the NF1 gene on chromosome 17. 12403553 Human
neurofibromin neurofibromatosis 1 Individuals with neurofibromatosis 1 present with abnormalities of both astrocytes and neurons that result from reduced or absent expression of the NF1 gene product neurofibromin. 12403558 Human
nf1 neurofibromatosis 1 Individuals with neurofibromatosis 1 present with abnormalities of both astrocytes and neurons that result from reduced or absent expression of the NF1 gene product neurofibromin. 12403558 Human
nf1 hyperplasia Loss of Nf1 in T cells results in enhanced Ras activation, which is associated with thymic and splenic hyperplasia, and an increase in the absolute number of immature and mature T-cell subsets compared with control mice. 12393709 Mouse
nf1 tumors Mice hemizygous for Nf1 mutations show enhanced pigmentation after nerve lesion and occasionally form pigmented and unpigmented tumors. 12427839 Mouse
neurofibromin tumour The gene products neurofibromin and merlin (schwannomin), respectively, are thought to act as tumour suppressors. 12447105 Human
nf1 tumor The TSC1, TSC2, and NF1 genes function as tumor suppressor genes and have other functions that are being investigated. 12616676 Human
nf1 cancer This suggests that PGD is a useful approach for avoiding the birth of children with inherited cancer predisposition, determined by NF1 and NF2 gene mutations. 12709270 Human
neurofibromin neurofibroma Western blot analysis failed to detect full-length neurofibromin in any of the neurofibroma SC cultures, indicating that neurofibromin-deficient SCs had a substantial growth advantage. 11159187 Human
neurofibromin tumor Neurofibromin, a tumor suppressor in the nervous system. 11237520 Human
nf1 tumors Loss of the tumor suppressor gene NF1 in neurofibromatosis type 1 (NF1) contributes to the development of a variety of tumors, including malignant peripheral nerve sheath tumors (MPNST) and benign neurofibromas. 11244508 Human
nf1 malignant peripheral-nerve-sheath tumors (mpnst) Loss of the tumor suppressor gene NF1 in neurofibromatosis type 1 (NF1) contributes to the development of a variety of tumors, including malignant peripheral nerve sheath tumors (MPNST) and benign neurofibromas. 11244508 Human
nf1 nervous system tumors MK was induced in human neurofibromas, schwannomas, and various nervous system tumors associated with NF1 or NF2; midkine showed an expression pattern overlapping but distinct from its homolog pleiotrophin (PTN). 11244508 Human
nf1 tumor Significant progress in our understanding of the genetics and biology of NF1 and NF2 has elucidated the roles of these genes in tumor initiation and progression. 11257108 Human
nf1 tumor Learning deficits, but normal development and tumor predisposition, in mice lacking exon 23a of Nf1. 11279521 Mouse
nf1 tumors Previous studies indicated that mice homozygous for a null mutation in Nf1 exhibit mid-gestation lethality, whereas heterozygous mice have an increased predisposition to tumors and learning impairments. 11279521 Mouse
nf1 tumor Here we show that mice lacking the alternatively spliced exon 23a, which modifies the GTPase-activating protein (GAP) domain of Nf1, are viable and physically normal, and do not have an increased tumor predisposition, but show specific learning impairment 11279521 Mouse
nf1 tumor The NF1 and NF2 genes function as tumor suppressor genes (negative growth regulators), such that their loss of expression predisposes to tumor formation. 11286939 Human
neurofibromin neurofibromatosis 1 BACKGROUND: Individuals affected with neurofibromatosis 1 (NF1) develop juvenile pilocytic astrocytomas (JPA) at an increased frequency, suggesting that the NF1 gene product, neurofibromin, functions as a negative growth regulator for astrocytes. 11294925 Human
neurofibromin neurofibromatosis type 1 The neurofibromatosis type 1 (NF1) tumor suppressor (neurofibromin) is thought to play crucial roles in cellular Ras- and cAMP-dependent kinase (PKA)-associated signals. 11297733 Human
nf1 jmml RAS, NF1, and PTPN11 mutations are largely mutually exclusive in JMML, which suggests that mutant SHP-2 proteins deregulate myeloid growth through Ras. 14644997 Human
neurofibromin neurofibromatosis 1 The gene causing neurofibromatosis 1 had been recognized and the protein encoded by this gene, neurofibromin, was supposed to play a role in development of various tissues. 11359370 Human
neurofibromin neurofibromatosis type 1 Here we show that expression of neurofibromin GRD, but not the p120GAP GRD, restores normal growth and cytokine signaling in three lineages of primary Nf1-deficient cells that have been implicated in the pathogenesis of neurofibromatosis type 1 (NF1). 11080503 Mouse
nf1 neurofibromatosis type 1 Here we show that expression of neurofibromin GRD, but not the p120GAP GRD, restores normal growth and cytokine signaling in three lineages of primary Nf1-deficient cells that have been implicated in the pathogenesis of neurofibromatosis type 1 (NF1). 11080503 Mouse
nf1 murine leukemia We describe how Nf1 mutant mice provide one example in which disrupting a tumor suppressor gene has been used to generate an informative murine leukemia model. 11407944 Mouse
nf1 tumors The large size of the NF1 gene together with the multicellular composition of these tumors has greatly hampered their molecular characterization. 11409870 Human
nf1 neurofibromatosis Mutations in the NF1 tumor suppressor gene cause neurofibromatosis type I (NF1), a disease characterized by the formation of cutaneous neurofibromas infiltrated with a high density of degranulating mast cells. 11435472 Human
nf1 malignant peripheral-nerve-sheath tumors NF1 deletions in S-100 protein-positive and negative cells of sporadic and neurofibromatosis 1 (NF1)-associated plexiform neurofibromas and malignant peripheral nerve sheath tumors. 11438454 Human
nf1 neurofibromatosis type 1 Using a dual-color fluorescence in situ hybridization and immunohistochemistry technique, we studied NF1 gene status in S-100 protein-positive and -negative cell subpopulations in archival paraffin-embedded specimens from seven PNs, two atypical PNs, one 11438454 Human
nf1 tumors Our results suggest that the Schwann cell is the primary neoplastic component in PNs and that S-100 protein-negative cells in MPNST represent dedifferentiated Schwann cells, which harbor NF1 deletions in both NF1-associated and sporadic tumors. 11438454 Human
nf1 malignant peripheral-nerve-sheath tumors Constitutional NF1 mutations in neurofibromatosis 1 patients with malignant peripheral nerve sheath tumors. 14517963 Human
nf1 neurofibromatosis 1 Constitutional NF1 mutations in neurofibromatosis 1 patients with malignant peripheral nerve sheath tumors. 14517963 Human
nf1 neurofibromatosis type 1 Recent evidence has been provided that links duplicons (REP-P and REP-M) in 17q11.2 flanking the neurofibromatosis type 1 (NF1) gene to the breakpoints of the NF1 microdeletion syndrome. 11479735 Human
nf1 neurofibromatosis type 1 Homologous recombination between poorly characterized regions flanking the NF1 locus causes the constitutional loss of approximately 1.5 Mb from 17q11.2 covering > or =11 genes in 5%-20% of patients with neurofibromatosis type 1 (NF1). 11468690 Human
neurofibromin neurofibroma Since patients with the NF1 large-deletion syndrome have a significantly increased risk of neurofibroma development and mental retardation, hemizygosity for genes from the deleted region around the neurofibromin locus (CYTOR4, FLJ12735, FLJ22729, HSA27219 11468690 Human
nf1 neurofibroma Since patients with the NF1 large-deletion syndrome have a significantly increased risk of neurofibroma development and mental retardation, hemizygosity for genes from the deleted region around the neurofibromin locus (CYTOR4, FLJ12735, FLJ22729, HSA27219 11468690 Human
nf1 c-cell hyperplasia C-cell hyperplasia foci were microdissected for DNA extraction to analyze the methylation pattern of androgen receptor alleles and microsatellite regions (TP53, RB1, WT1, and NF1). 11502837 Human
nf1 type 1 neurofibromatosis We show that growth of the perineurial glia is controlled by interactions among five genes: ine, which encodes a putative neurotransmitter transporter; eag, which encodes a potassium channel; push, which encodes a large, Zn(2+)-finger-containing protein; 11517334 Human
nf1 acute myeloid leukemia Retroviral integration at the Epi1 locus cooperates with Nf1 gene loss in the progression to acute myeloid leukemia. 11533205 Human
nf1 jmml As it is known that children with neurofibromatosis type 1 syndrome have a markedly increased risk of developing JMML, we have previously developed a mouse model of JMML through reconstitution of lethally irradiated mice with hematopoietic stem cells homo 11533205 Mouse
nf1 neurofibromatosis type 1 As it is known that children with neurofibromatosis type 1 syndrome have a markedly increased risk of developing JMML, we have previously developed a mouse model of JMML through reconstitution of lethally irradiated mice with hematopoietic stem cells homo 11533205 Mouse
nf1 juvenile myelomonocytic leukemia The NF1 tumor-suppressor gene is frequently inactivated in juvenile myelomonocytic leukemia, and Nf1 mutant mice model this myeloproliferative disorder (MPD). 11544276 Mouse
nf1 tumors Among the 11 NF1-associated tumors with NF1 loss, 5 had also lost alleles on 17p. 11556548 Human
nf1 tumor The high rate of NF1 allele loss in NF1-associated pilocytic astrocytomas suggests a tumor initiating or promoting action of the NF1 gene in these patients. 11556548 Human
neurofibromin human breast cancer Human breast cancer MDA-MB-231 cells fail to express the neurofibromin protein, lack its type I mRNA isoform and show accumulation of P-MAPK and activated Ras. 11566491 Human
neurofibromin tumor Neurofibromin is a tumor suppressor protein, which is similar in function to the GTPase activating protein (GAP), p120GAP, in that it accelerates inactivation of Ras. 11566491 Human
nf1 neurofibromatosis type 1 Mutations in the NF1 gene cause neurofibromatosis type 1, NF1, an autosomal dominant disease with a diverse spectrum of clinical manifestations, including neurofibromas. 11566491 Human
neurofibromin human breast cancer Strikingly, neurofibromin was nearly absent in MB-231 human breast cancer cells and present in the remaining four cell lines studied, with higher levels in BT-474 and MB-453 than in MCF-7 and BT-20 cells, as tested with polyclonal antibodies to both the N 11566491 Human
nf1 breast cancer This result documents for the first time an altered NF1 expression at the protein and mRNA levels in MDA-MB-231 breast cancer cells. 11566491 Human
neurofibromin neurofibromatosis PKA phosphorylation and 14-3-3 interaction regulate the function of neurofibromatosis type I tumor suppressor, neurofibromin. 14741381 Human
neurofibromin tumor Neurofibromin, a neurofibromatosis type I (NF1) tumor suppressor gene product, has a domain acting as a GTPase activating protein and functions in part as a negative regulator of Ras. 14741381 Human
neurofibromin neurofibromatosis Neurofibromin, a neurofibromatosis type I (NF1) tumor suppressor gene product, has a domain acting as a GTPase activating protein and functions in part as a negative regulator of Ras. 14741381 Human
nf1 malignant tumors Mutations in the neurofibromatosis type 1 (NF1) tumor suppressor gene predispose individuals to a variety of benign and malignant tumors. 14988005 Human
nf1 cervical cancers RESULTS: Comparison of the two groups revealed that isolates from cervical cancers predominantly carry changes in sequences of YY1 binding sites (especially at nucleotide 7519), while variants from asymptomatic carriers contained nucleotide changes within 11595585 Human
nf1 neurofibromatosis 1 Differential localization of the neurofibromatosis 1 (NF1) gene product, neurofibromin, with the F-actin or microtubule cytoskeleton during differentiation of telencephalic neurons. 11675125 Human
neurofibromin neurofibromatosis 1 The protein product of the neurofibromatosis 1 gene, neurofibromin, is abundantly expressed in the cerebral cortex during development, but its physiological role remains unknown. 11675125 Human
nf1 spinal neurofibromatosis Spinal neurofibromatosis without cafe-au-lait macules in two families with null mutations of the NF1 gene. 11704931 Human
nf1 tumors This demonstrates that typical NF1 null mutations can result in a phenotype that is distinct from classical NF1, showing only a small spectrum of the NF1 symptoms, such as multiple spinal tumors, but not completely fitting the current clinical criteria fo 11704931 Human
nf1 anal malignant melanoma Allelic loss of the NF1 gene in anal malignant melanoma in a patient with neurofibromatosis type 1. 11706558 Human
nf1 neurofibromatosis type 1 Allelic loss of the NF1 gene in anal malignant melanoma in a patient with neurofibromatosis type 1. 11706558 Human
nf1 tumor Genetic analysis of the resected tumor confirmed loss of heterozygosity (LOH) of the NF1 gene. 11706558 Human
nf1 malignant melanoma The allelic loss detected in the present patient supports the previously raised idea that NF1 can function as a tumor suppressor gene in the development of malignant melanoma in patients with NF1. 11706558 Human
nf1 tumor The allelic loss detected in the present patient supports the previously raised idea that NF1 can function as a tumor suppressor gene in the development of malignant melanoma in patients with NF1. 11706558 Human
neurofibromin von recklinghausen disease The NF1 (neurofibromatosis type 1, or von Recklinghausen disease) gene, is a tumor-suppressor gene, and its product, neurofibromin, down-regulates ras protein by its guanosine triphosphatase-activating protein (GAP)-related domain. 11727265 Human
neurofibromin neurofibromatosis type 1 The NF1 (neurofibromatosis type 1, or von Recklinghausen disease) gene, is a tumor-suppressor gene, and its product, neurofibromin, down-regulates ras protein by its guanosine triphosphatase-activating protein (GAP)-related domain. 11727265 Human
nf1 neurofibromatosis type 1 Evaluation of denaturing high performance liquid chromatography (DHPLC) for the mutational analysis of the neurofibromatosis type 1 ( NF1) gene. 11735023 Human
nf1 tumors Tumors are believed to arise by the loss of function of the NF1 protein, suggesting that NF1 behaves as a tumor suppressor gene. 11898512 Human
nf1 tumor Tumors are believed to arise by the loss of function of the NF1 protein, suggesting that NF1 behaves as a tumor suppressor gene. 11898512 Human
nf1 neurofibromatosis type 1 Neurofibromatosis type 1 patients with a submicroscopic deletion spanning the NF1 tumor suppressor gene are remarkable for an early age at onset of cutaneous neurofibromas, suggesting the deletion of an additional locus that potentiates neurofibromagenesi 10587576 Human
nf1 tumors Therefore, in addition to the germline rearrangements reported here, NF1REP-mediated somatic recombination could be an important mechanism for the loss of heterozygosity at NF1 in tumors of NF1 patients. 10587576 Human
nf1 von recklinghausen disease Neurofibromatosis 1 (NF1), also known as von Recklinghausen disease, is an autosomal dominant condition caused by mutations of the NF1 gene, which is located at chromosome 17q11.2. 10625171 Human
nf1 neurofibromatosis 1 Neurofibromatosis 1 (NF1), also known as von Recklinghausen disease, is an autosomal dominant condition caused by mutations of the NF1 gene, which is located at chromosome 17q11.2. 10625171 Human
nf1 leukemias Consistent with Knudson's "two hit" model of tumor suppressor genes, leukemias and malignant solid tumors in NF1 patients frequently demonstrate somatic loss of the normal NF1 allele. 10620616 Human
nf1 solid tumors Consistent with Knudson's "two hit" model of tumor suppressor genes, leukemias and malignant solid tumors in NF1 patients frequently demonstrate somatic loss of the normal NF1 allele. 10620616 Human
nf1 neurofibromatosis Two familial and seven sporadic patients with neurofibromatosis 1-who showed dysmorphism, learning disabilities/mental retardation, and additional signs and carried deletions of the NF1 gene-were investigated by use of a two-step FISH approach to characte 10631140 Human
nf1 tumour Genetic and biochemical data support the hypothesis that NF1 acts as a tumour suppressor gene. 10633134 Human
nf1 tumours We have studied 82 tumours from 45 NF1 patients. 10633134 Human
nf1 tumour First, evidence of loss of heterozygosity (LOH) of the NF1 gene region was investigated, and, second, a screen for the presence of sequence alterations was conducted on a large panel of DNA derived from matched blood/tumour pairs. 10633134 Human
nf1 plexiform neurofibroma In a plexiform neurofibroma from an NF1 patient, mutations in both NF1 alleles have been characterised. 10633134 Human
nf-1 tumour Our study also provides the first data on molecular alterations [polymerase chain reaction/loss of heterozygosity (LOH) analysis] of the APC, NF-1, DCC, p53, nm23-H1 and BRCA-1 genes in the two components of the collision tumour. 10664249 Human
nf1 juvenile myelomonocytic leukemias The NF1 tumor suppressor gene encodes a guanosine triphosphotase (GTPase)-activating protein that negatively regulates Ras signaling and is inactivated in a subset of juvenile myelomonocytic leukemias (JMMLs). 14982883 Human
nf1 jmml Adoptive transfer of fetal liver cells from Nf1 mutant mice models JMML; however, this system has important limitations as a platform for performing biologic and preclinical studies. 14982883 Mouse
neurofibromin neurofibromatosis type 1 We aimed to identify protein binding regions of the long and highly conserved 3'UTR of the mRNA coding for neurofibromin, a well-known tumor suppressor protein, whose genetic deficiency causes the autosomal dominant disease neurofibromatosis type 1 ( 10673359 Human
neurofibromin tumor We aimed to identify protein binding regions of the long and highly conserved 3'UTR of the mRNA coding for neurofibromin, a well-known tumor suppressor protein, whose genetic deficiency causes the autosomal dominant disease neurofibromatosis type 1 ( 10673359 Human
nf1 neurofibromatosis type 1 Toward a survey of somatic mutation of the NF1 gene in benign neurofibromas of patients with neurofibromatosis type 1. 10677298 Human
nf1 neurofibromatosis type 1 Neurofibromatosis type 1 (NF1), a common autosomal dominant disorder caused by mutations of the NF1 gene, is characterized by multiple neurofibromas, pigmentation anomalies, and a variety of other possible complications, including an increased risk of mal 10677298 Human
nf1 tumors Our results suggest that small subtle mutations occur with similar frequency to that of LOH in benign neurofibromas and that somatic inactivation of the NF1 gene is a general event in these tumors. 10677298 Human
nf1 tumour In addition to being involved in tumour formation, NF1 has been reported to cause learning defects in humans and Nf1 knockout mice. 10706287 Human
nf1 neurofibromatosis type 1 A nonsense mutation at Arg-1947 in the NF1 gene in a case of neurofibromatosis type 1 in a Korean patient. 10721668 Human
nf1 neurofibromatosis type 1 Because this mutation has been described in multiple Caucasian and Japanese families, the codon CGA for Arg-1947 in the NF1 gene is considered to be a hotspot for mutation in neurofibromatosis type 1 in all ethnic groups. 10721668 Human
nf1 malignant schwannoma Additionally, the recurrent 4 bp deletion was found as a second hit in a malignant schwannoma of a further NF1 patient, suggesting that microlesions may be as frequent among somatic as among germline mutations. 10726756 Human
nf1 neurofibromatosis type 1 The characteristic lesions of moyamoya disease are occasionally seen in neurofibromatosis type 1, of which the causative gene (NF1) has been assigned to chromosome 17q11.2. 10754001 Human
neurofibromin peripheral nerve tumors The NF1 gene product, neurofibromin, is hypothesized to function as a tumor suppressor and nearly all NF1 patients develop benign peripheral nerve tumors. 10767330 Human
nf1 peripheral nerve tumors The NF1 gene product, neurofibromin, is hypothesized to function as a tumor suppressor and nearly all NF1 patients develop benign peripheral nerve tumors. 10767330 Human
neurofibromin tumor The NF1 gene product, neurofibromin, is hypothesized to function as a tumor suppressor and nearly all NF1 patients develop benign peripheral nerve tumors. 10767330 Human
nf1 tumor The NF1 gene product, neurofibromin, is hypothesized to function as a tumor suppressor and nearly all NF1 patients develop benign peripheral nerve tumors. 10767330 Human
nf1 neurofibroma Our findings further indicate that additional molecular events aside from NF1 inactivation in Schwann cells and/or other neural crest derivatives contribute to neurofibroma formation. 10767330 Human
nf1 neurofibromatosis In addition, the mother's and maternal grandmother's genetic analysis showed identical mutations in the neurofibromatosis I gene on the long arm of chromosome 17, confirming the diagnosis of NF1. 10787042 Human
nf1 neurofibromatosis type 1 A large deletion (1.5 Mb) encompassing the neurofibromatosis type 1 (NF1) gene in a patient with sporadic NF1 associated with dysmorphism, mental retardation, and unusual ocular and skeletal features. 14564162 Human
nf1 tumor It has been shown that the NF1 (neurofibromatosis type 1) gene encodes a tumor suppressor which inactivates ras proteins. 10812008 Human
nf1 neurofibromatosis Large deletions of the NF1 locus occur in 5 to 10% of patients with neurofibromatosis and are commonly associated with specific additional abnormalities characterized by mental retardation, dysmorphic features, and intellectual impairment. 10843809 Human
nf1 papilloma The neurofibromatosis type 1 (Nf1) tumor suppressor is a modifier of carcinogen-induced pigmentation and papilloma formation in C57BL/6 mice. 10844550 Mouse
nf1 skin cancer To test if NF1 can play a part in skin tumor formation, we analyzed effects of the skin cancer initiator dimethylbenz-anthracene and/or the tumor promoter 12-O-tetradecanoyl-13-acetylphorbol on mice heterozygous for null mutations in Nf1 (Nf1+/-). 10844550 Mouse
nf1 tumor To test if NF1 can play a part in skin tumor formation, we analyzed effects of the skin cancer initiator dimethylbenz-anthracene and/or the tumor promoter 12-O-tetradecanoyl-13-acetylphorbol on mice heterozygous for null mutations in Nf1 (Nf1+/-). 10844550 Mouse
neurofibromin papillomas All papillomas analyzed (six of six) had mutations in codon 61 of H-ras, demonstrating strong cooperation between the Nf1 GTPase activating protein for Ras, neurofibromin, and Ras-GTP. 10844550 Mouse
nf1 papillomas All papillomas analyzed (six of six) had mutations in codon 61 of H-ras, demonstrating strong cooperation between the Nf1 GTPase activating protein for Ras, neurofibromin, and Ras-GTP. 10844550 Mouse
nf1 tumor The NF1 gene, on chromosome segment 17q11.2, encodes a protein that has tumor suppressor function. 10862051 Human
nf1 tumor Our chromosome 17 LOH analysis in a cohort of three tumor types was positive for NF1 allele loss in 2/15 (13%) dermal neurofibromas, 4/10 (40%) plexiform neurofibromas, and 3/5 (60%) MPNSTs. 10862051 Human
nf1 segmental neurofibromatosis Segmental neurofibromatosis is caused by somatic mutation of the neurofibromatosis type 1 (NF1) gene. 10878667 Human
nf1 neurofibromatosis Genetic abnormalities of familial pheochromocytomas have elucidated oncogenic genetic bases of the tumor, including gene abnormalities of the RET proto-oncogene in multiple endocrine neoplasia type 2, VHL gene in von Hippel Lindau's disease or the NF 10915008 Human
nf1 optic nerve glioma Optic nerve glioma in mice requires astrocyte Nf1 gene inactivation and Nf1 brain heterozygosity. 14695164 Mouse
nf1 tumors This mouse model demonstrates that Nf1+/- cells contribute to the pathogenesis of gliomas in NF1 and provides a tool for the preclinical evaluation of potential therapeutic interventions for these tumors. 14695164 Mouse
nf1 tumors Ninety-one tumors from 31 NF1 patients were screened for gross changes in the NF1 gene using microsatellite/restriction fragment length polymorphism (RFLP) markers; loss of heterozygosity (LOH) was found in 17 out of 91 (19%) tumors (including two out of 14722917 Human
nf1 tumors Denaturing high performance liquid chromatography (DHPLC) was then used to screen 43 LOH-negative and 10 LOH-positive tumors for NF1 microlesions at both RNA and DNA levels. 14722917 Human
nf1 tumor The TSC1, TSC2, and NF1 genes function as tumor suppressor genes and have other functions that are being investigated. 14743661 Human
nf1 tumour The critical role of the neurofibromatosis 1 (NF1) gene as a tumour suppressor has been clearly demonstrated for malignancies arising in NF1 patients. 10931370 Human
neurofibromin tumours All eight tumours demonstrated loss of neurofibromin expression by immunohistochemistry, which was confirmed in one case using Western blot analysis. 10931370 Human
nf1 tumours Microsatellite analysis showed loss of a single NF1 allele (LOH) in two of four NF1-associated tumours. 10931370 Human
nf1 neurofibromatosis Humans with mutations in NF1 develop neurofibromatosis type I (NF1) and have increased risk of optic gliomas, astrocytomas and glioblastomas. 10973261 Human
nf1 juvenile myelomonocytic leukemia (jmml) Children with neurofibromatosis type 1 (NF1) carry germline mutations in one allele of the NF1 gene and are predisposed to myeloid malignancies, particularly juvenile myelomonocytic leukemia (JMML). 10979983 Human
nf1 t-cell lymphoma Flow cytometric cell sorting techniques to isolate the malignant cell populations and molecular genetic methods to assay for somatic loss of the normal NF1 allele were used to study an unusual child with NF1 and JMML who subsequently had T-cell lymphoma. 10979983 Human
nf1 lymphoma The data show that malignant JMML and lymphoma cells share a common loss of genetic material involving the normal NF1 gene and approximately 50 Mb of flanking sequence, suggesting that the abnormal T-lymphoid and myeloid populations were derived from a co 10979983 Human
nf1 jmml The data show that malignant JMML and lymphoma cells share a common loss of genetic material involving the normal NF1 gene and approximately 50 Mb of flanking sequence, suggesting that the abnormal T-lymphoid and myeloid populations were derived from a co 10979983 Human
nf1 neurofibromatosis We studied the NF1 gene in 93 unrelated patients with neurofibromatosis type1, focusing the analysis on four exons that contain the highest number of possible mutations occurring at CpG sites. 10980545 NA
neurofibromin astrocytoma Loss of neurofibromin is associated with activation of RAS/MAPK and PI3-K/AKT signaling in a neurofibromatosis 1 astrocytoma. 11005256 Human
neurofibromin tumor Neurofibromin, the protein product of the NF1 gene, functions as a tumor suppressor, largely by inhibiting Ras activity. 11005256 Human
nf1 tumor Neurofibromin, the protein product of the NF1 gene, functions as a tumor suppressor, largely by inhibiting Ras activity. 11005256 Human
neurofibromin tumors While loss of neurofibromin has been implicated in the molecular pathogenesis of other NF1-associated tumors, there is no formal evidence demonstrating loss of neurofibromin function in NF1-associated astrocytomas. 11005256 Human
neurofibromin tumor Loss of neurofibromin expression was observed in the tumor and was associated with elevated levels of Ras-GTP. 11005256 Human
neurofibromin tumor The NF1 gene encodes neurofibromin, a tumor suppressor postulated to function in part as a Ras GTPase-activating protein. 10900196 Human
nf1 tumor The NF1 gene encodes neurofibromin, a tumor suppressor postulated to function in part as a Ras GTPase-activating protein. 10900196 Human
neurofibromin neurofibroma Our results indicate that Ras activity is detectably increased in only some neurofibroma Schwann cells and suggest that neurofibromin is not an essential regulator of Ras activity in fibroblasts. 10900196 Mouse
nf1 neurofibromatosis type 1 Identification of two novel frame shift mutations of the NF1 gene in Korean patients with neurofibromatosis type 1. 11068991 Human
nf1 hepatocellular carcinomas Furthermore, gel-shift analyses performed with nuclear factors prepared from well-differentiated hepatocellular carcinomas showed increased HNF3/NF1 binding activity compared with normal livers. 11093745 Human
nf1 tumors We cultured pure populations of SCs and fibroblasts derived from 10 neurofibromas with characterized NF1 mutations and found that SCs but not fibroblasts harbored a somatic mutation at the NF1 locus in all studied tumors. 11115850 Human
nf1 neurofibroma These data strongly support the idea that NF1 mutations in SCs, but not in fibroblasts, correlate to neurofibroma formation and demonstrate that only a portion of SCs in neurofibromas have mutations in both NF1 alleles. 11115850 Human
nf1 desmoplastic neurotropic melanoma Allelic loss at the neurofibromatosis type 1 (NF1) gene locus is frequent in desmoplastic neurotropic melanoma. 11129335 Human
nf1 nerve sheath tumours Mutations of the tumour-suppressor gene NF1 (neurofibromatosis 1) have been observed in neurofibromas and neurofibrosarcomas of patients with von Recklinghausen's disease and in sporadic nerve sheath tumours. 11129335 Human
nf1 melanoma In contrast, melanoma, another tumour type of neuroectodermal origin, rarely shows NF1 alterations. 11129335 Human
nf1 familial cancer syndromes Ten % of these tumors are associated with the familial cancer syndromes multiple endocrine neoplasia type 2, von Hippel-Lindau disease (VHL), and rarely, neurofibromatosis type 1, in which germ-line mutations have been identified in RET, VHL, and NF1, res 11156410 Human
nf1 tumours We analysed 20 neurofibromas and three neurofibrosarcomas, but did not find evidence for microsatellite instability or NF1 promoter methylation in any of the tumours. 11175282 NA
nf1 malignant peripheral-nerve-sheath tumors We have analyzed 98.5% of the coding region of the NF1 gene at the cDNA level in seven NF1 patients who developed malignant peripheral nerve sheath tumors. 10534774 NA
nf1 metastatic adenocarcinoma We describe the ultrasound, CT and barium findings in a patient with NF1 who had a huge benign plexiform neurofibroma of the ileum that was infiltrated with metastatic adenocarcinoma. 10560344 Human
nf1 familial cancer syndrome Neurofibromatosis type 1 (NF1) is a prevalent familial cancer syndrome resulting from germ line mutations in the NF1 tumor suppressor gene. 10591652 Human
nf1 soft-tissue sarcomas One hundred percent of mice harboring null Nf1 and p53 alleles in cis synergize to develop soft tissue sarcomas between 3 and 7 months of age. 10591653 Mouse
nf1 soft-tissue sarcoma Editing and hyperediting of apo B, NAT1 or NF1 mRNA was not identified in any of 28 resected tumor specimens, including hepatocellular, bile duct, gastric, colorectal, pancreatic adeno- and neuroendocrine, lung adeno-, medullary thyroid and breast carcino 10597235 Human
nf1 breast carcinoma Editing and hyperediting of apo B, NAT1 or NF1 mRNA was not identified in any of 28 resected tumor specimens, including hepatocellular, bile duct, gastric, colorectal, pancreatic adeno- and neuroendocrine, lung adeno-, medullary thyroid and breast carcino 10597235 Human
nf1 epithelial ovarian tumors Differential expression of NF1 type I and type II isoforms in sporadic borderline and invasive epithelial ovarian tumors. 9926941 Human
nf1 neuroectodermal tumor Two forms of the NF1 GRD transcript (Type I and Type II) are differentially expressed in neuroectodermal tumor tissue relative to differentiated neural cells, and in gastric cancer cell lines relative to normal stomach mucosa. 9926941 Human
nf1 gastric cancer Two forms of the NF1 GRD transcript (Type I and Type II) are differentially expressed in neuroectodermal tumor tissue relative to differentiated neural cells, and in gastric cancer cell lines relative to normal stomach mucosa. 9926941 Human
nf1 ovarian malignancies We propose that differential expression of the NF1 Type I and Type II isoforms is related to cellular differentiation in ovarian epithelial cancer and strategies based on alteration in NF1 isoform expression may have therapeutic potential in ovarian malig 9926941 Human
nf1 ovarian epithelial cancer We propose that differential expression of the NF1 Type I and Type II isoforms is related to cellular differentiation in ovarian epithelial cancer and strategies based on alteration in NF1 isoform expression may have therapeutic potential in ovarian malig 9926941 Human
nf1 cancer-predisposing syndrome BACKGROUND: Neurofibromatosis Type 1 (NF1) is an autosomal dominant transmitted cancer predisposing syndrome, with peripheral nerve tumors being a prominent feature. 10029430 Human
nf-1 hematologic malignancies Although an increased risk of hematologic malignancies in children with Neurofibromatosis-1 (NF-1) is well established, whether adults with NF-1 have an increased risk of such malignancies is unclear. 10048435 Human
nf-1 secondary myelodysplastic syndromes We currently describe two adult patients with NF-1 who rapidly developed secondary myelodysplastic syndromes with abnormalities of chromosome 7 following chemotherapy for AML. 10048435 Human
nf1 xanthomas We suggest that the presence of xanthomas and NF1 in a young child should raise awareness of the possible development of JCML, especially in patients with a family history of NF1. 10063210 Human
nf-1 arachnoid cysts In NF-1 patients with FPN there seems to be a high incidence of intracranial tumors and possibly of arachnoid cysts. 2518508 Human
nf-1 angiomas We present data about skin Morgan angiomas in the general US white population and a cohort of patients with NF-1 and their unaffected relatives. 3152460 Human
nf-1 angiomas Among patients with NF-1, angiomas were significantly more common, but not so among unaffected relatives. 3152460 Human
nf1 second malignancy Half of the NF1 patients with p53-positive MPNSTs developed recurrence or metastases or developed a second malignancy within 2 years of diagnosis, whereas patients with p53-positive sporadic MPNSTs were free of disease 1 to 7 years later. 10347283 Human
nf1 soft-tissue tumors However, the incidence of cervical soft tissue tumors and the value of screening MR for children with NF1 are not known. 10382213 Human
nf1 malignant gliomas However, the MIB-1 LIs increased to 15.2% and 18% in two patients with NF1 who developed highly malignant gliomas 6 and 6.5 years after irradiation. 10421072 Human
nf1 malignant triton tumor To determine the role of the NF1 and p53 genes in the development of the malignant Triton tumor we examined 2 such tumors, 1 from a 3-year-old boy without clinical manifestations of NF1 and another from a 24-year-old man with NF1. 10452514 Human
nf1 intracranial neoplasms Optic pathway gliomas and brainstem gliomas are the predominant intracranial neoplasms associated with neurofibromatosis type 1 (NF1). 10469435 Human
nf1 soft-tissue sarcoma Molecular analysis was performed by reverse transcription (RT) polymerase chain reaction (PCR) on tumor RNA to seek the chimerical transcript of the most common soft tissue sarcoma translocations and analyze neurofibromatosis 1 (NF1) gene expression. 10524458 Human
nf1 atypical meningioma A 9-year-old girl with neurofibromatosis type 1 (NF1) presented with a massive atypical meningioma and calvarial defect. 12719945 Human
nf1 atypical meningioma To our knowledge, this is the first case of NF1 associated with atypical meningioma and massive calvarial defect in a child. 12719945 Human
nf1 jcml We studied 8 Japanese JCML patients without NF1 for mutations in exons 21-36 of the NF1 gene by using polymerase chain reaction/single-strand conformation polymorphism analysis. 9691142 NA
nf1 colon carcinoma Mutations involving the GRD region of the NF1 gene (GRD-NF1) have been described in a variety of tumors such as colon carcinoma and astrocytoma. 9783802 Human
neurofibromin traumatic neuromas In the present study we investigated the expression of the ERBB2 protein and neurofibromin in human benign and malignant Schwann cell tumors, traumatic neuromas and peripheral nerves without pathological findings. 9824645 Human
neurofibromin traumatic neuromas Low levels of neurofibromin were detectable in normal nerves but not in traumatic neuromas or tumors. 9824645 Human
nf1 chronic myelomonocytic leukemia The transient thrombocythemia may relate to a regulator of megakaryocytopoiesis located in the vicinity of the NF1 gene or to the excessive risk of chronic myelomonocytic leukemia in neurofibromatosis. 9042140 Human
nf1 hematologic malignancies BACKGROUND: Children with neurofibromatosis type 1 (NF1) are at increased risk of developing benign and malignant solid tumors as well as hematologic malignancies, including de novo juvenile chronic myelogenous leukemia, monosomy 7 syndrome, and acute mye 9083167 Human
nf1 hematologic malignancies The normal NF1 allele is frequently deleted in the bone marrow cells from NF1 patients with hematologic malignancies, suggesting a pathogenic role in primary leukemogenesis. 9083167 Human
nf1 primary malignancies The risk of an SMN was approximately 11% among the 64 NF1 registrants with primary malignancies in the CHOP registry, but was 75% (6 of 8) among patients treated for a pediatric embryonal cancer. 9083167 Human
nf1 plexiform neurofibroma Clonal origin of tumor cells in a plexiform neurofibroma with LOH in NF1 intron 38 and in dermal neurofibromas without LOH of the NF1 gene. 9177273 Human
nf1 plexiform neurofibroma In this plexiform neurofibroma of a NF1 patient with a constitutional one base-pair insertion in NF1 exon 4b, a non-random X-inactivation pattern was found, strongly suggesting a clonal origin of the tumor cells. 9177273 Human
nf1 intracranial neoplasms The association of optic glioma and other intracranial neoplasms in patients with NF1 suggests that there are fundamental pathophysiological differences between patients with and without optic glioma. 9208416 Human
nf1 recurrent tumors LOH was observed in 11/19 (58%) instances with frequent involvement of TP53, NF1, and D17S795 loci, LOH at D17S578 and D17S520 occurred in recurrent tumors exclusively. 9266149 Human
nf1 chronic myeloid leukaemia Nf1 deficiency causes Ras-mediated granulocyte/macrophage colony stimulating factor hypersensitivity and chronic myeloid leukaemia. 8563750 Human
nf1 jcml For example, activating point mutations in RAS genes are found in some patients with juvenile chronic myelogenous leukaemia (JCML), while other patients with JCML show loss of the neurofibromatosis type 1 (NF1) gene, a Ras GTPase activating protein. 8563750 Human
nf1 jcml By generating mice whose haematopoietic system is reconsituted with Nf1 deficient haematopoietic stem cells we show that Nf1 gene loss, by itself, is sufficient to produce the myeloproliferative symptoms associated with human JCML. 8563750 Mouse
neurofibromin jcml These data define a specific role for neurofibromin in negatively regulating GM-CSF signaling through Ras in haematopoietic cells and they suggest that hypersensitivity to GM-CSF may be a primary event in the development of JCML. 8563751 Human
nf1 hepatoma In vitro editing and transfection assays demonstrated that apoB and NF1 RNA editing will take place in both neural tumor and hepatoma cells. 8602361 Human
nf1 familial neurofibromatosis In familial neurofibromatosis type 1 (NF1), individuals with a germ line-transmitted NF1 mutation develop multiple neurofibromas. 8627811 Human
nf1 neurofibromatosis type 1 We studied the prevalence of myopia in 17-year-old Israeli military recruits with neurofibromatosis type 1 (NF1). 8641867 NA
nf1 brainstem tumors The appropriate management of brainstem tumors in patients with neurofibromatosis 1 (NF1) has been problematic because the natural history of these lesions remains poorly defined. 8649565 Human
nf1 human colon cancer Suppression of a human colon cancer cell line by introduction of an exogenous NF1 gene. 8665528 Human
nf1 embryonal carcinoma We studied the combined role of cAMP and NF1 in regulating the expression of the JCV early promoter-enhancer (JCVE) in differentiating glial and muscle P19 embryonal carcinoma cells. 8818965 NA
nf-1 pleomorphic xanthoastrocytoma The authors report a case of pleomorphic xanthoastrocytoma (PXA) with neurofibromatosis type 1 (NF-1). 8916131 Human
nf-1 diffuse neurofibroma PURPOSE: To report a case of a primary corneal diffuse neurofibroma in a patient with von Recklinghausen disease (NF-1). 12502951 Human
nf1 extracolonic cancer These children exhibited a constitutional genetic instability associated with clinical features of de novo neurofibromatosis type 1 (NF1) and early onset of extracolonic cancer. 12522551 Human
nf1 acute leukemia Our results support the theory that JMML may derive from pluripotential cells and that the occurrence of monosomy of chromosome 7 within a clone of cells having an aberrant neurofibromatosis type 1 (NF1) gene may be the cause of JMML and acute leukemia. 12531231 Human
nf1 malignant blue nevus We performed a molecular analysis for loss of heterozygosity on microdissected samples from the spectrum of benign to malignant blue nevus, using a panel of eight genes (MTS1, MXI1, CMM1, p53, NF1, L-myc hOGG1, and MCC), many of which are commonly associa 12544095 Human
nf-1 malignant fibrous histiocytoma A 48-year-old man with the nonfamilial form of neurofibromatosis type 1 (NF-1) developed a malignant fibrous histiocytoma in the deep soft tissue of the calf. 7887787 Human
nf-1 cutaneous malignant melanoma However, it is still controversial whether cutaneous malignant melanoma is more prevalent in NF-1 patients. 7887787 Human
nf-1 malignant fibrous histiocytoma Anorectal melanoma and malignant fibrous histiocytoma are exceedingly rare in NF-1. 7887787 Human
nf1 aplasia Aplasia of second inferior molars is an additional (dental) finding associated with plexiform neurofibromata in NF1. 12553919 Human
nf1 breast and ovarian cancer Nonsense or frameshift mutations, which result in a truncated gene product, are prevalent in a variety of disease-related genes, including APC (implicated in colorectal cancer), BRCA1 and BRCA2 (breast and ovarian cancer), PKD1 (polycystic kidney disease) 12524552 Human
nf1 colorectal cancer Nonsense or frameshift mutations, which result in a truncated gene product, are prevalent in a variety of disease-related genes, including APC (implicated in colorectal cancer), BRCA1 and BRCA2 (breast and ovarian cancer), PKD1 (polycystic kidney disease) 12524552 Human
nf1 chronic myelomonocytic leukemia Exon trap analysis of a NF1 splice-site mutation in a chronic myelomonocytic leukemia patient. 7769857 Human
nf1 chronic myelomonocytic leukemia We have previously described a patient with chronic myelomonocytic leukemia who exhibited a mutation (del-10:-8) in the splice-acceptor region in front of the FLR exon of the NF1 tumor suppressor gene. 7769857 Human
nf1 acute leukemia We examined NF1 in 50 patients with MDS including 9 who had progressed to more advanced stages and 16 to acute leukemia. 7599322 Human
neurofibromin soft tissue tumours Reduced expression of neurofibromin in the soft tissue tumours obtained from patients with neurofibromatosis type I. 1. 7614817 Human
neurofibromin fibrolipoma 3. Western blot analysis demonstrated deficiency of neurofibromin in the tumours derived from three out of the four neurofibromatosis type 1 patients: a fibrolipoma, a malignant schwannoma and a neurofibroma. 7614817 Human
neurofibromin hyperplasia We conclude that neurofibromin functions as a major regulator of Ras-GTP in Schwann cells; however, mutation in NF1 by itself is unlikely to explain the hyperplasia observed in Schwann cell tumors in NF1 disease. 7624147 Human
nf1 hyperplasia We conclude that neurofibromin functions as a major regulator of Ras-GTP in Schwann cells; however, mutation in NF1 by itself is unlikely to explain the hyperplasia observed in Schwann cell tumors in NF1 disease. 7624147 Human
neurofibromin squamous-cell carcinomas Further studies concentrated on neurofibromin expression in basal cell and squamous cell carcinomas. 7637322 Human
neurofibromin epidermal cancers Furthermore, aberrations in neurofibromin expression may play a role in the pathogenesis of epidermal cancers. 7637322 Human
nf1 encephalocraniocutaneous lipomatosis Encephalocraniocutaneous lipomatosis with a mutation in the NF1 gene. 7643367 Human
nf1 eccl In this report, a child is described with ECCL and a de novo nonsense mutation in exon 29 (S1745X) of the neurofibromatosis type 1 (NF1) gene. 7643367 Human
nf1 eccl Although it is possible that both ECCL and NF1 occur coincidentally in this patient, we favour the hypothesis that in exceptional cases a mutation in the NF1 gene might give rise to severe congenital malformations such as ECCL. 7643367 Human
nf1 brainstem tumors Brainstem tumors in NF1 have been confused clinically with non-NF1 brainstem tumors and radiographically with the increased T2 signal abnormalities, also known as "unidentified bright objects" (UBOs), which are common in NF1 and often located in 7477989 Human
nf1 brainstem tumor Seven NF1 patients (41%) required shunt placement for hydrocephalus at initial diagnosis, more frequent than in non-NF1 brainstem tumor patients. 7477989 Human
nf-1 intracranial germinoma Intracranial germinoma associated with neurofibromatosis 1 (NF-1) has never been documented previously. 7585682 Human
nf-1 germinoma We report a case of familial NF-1 with a germinoma involving the right basal ganglion and thalamus. 7585682 Human
nf-1 intracranial germinoma Although this finding of an intracranial germinoma in a patient with familial NF-1 may be coincident, it is suggestive of a potential genetic predisposition. 7585682 Human
nf-1 germ-cell tumor Longitudinal evaluation for the possibility of neoplasm, especially germ cell tumor, in basal ganglion lesions in NF-1 patients is necessary. 7585682 Human
nf1 men 2b Exons 10 and 11 were studied in genomic DNAs from 3 clinically apparent sporadic MTCs, MTCs and pheochromocytomas from 2 patients with MEN 2A, 1 with FMTC, 4 with MEN 2B, 3 with neurofibromatosis type 1 (NF1), 12 sporadic pheochromocytomas and an MTC cell 8556059 Human
nf1 mycosis fungoides We describe a patient with NF1 and mycosis fungoides. 12889711 Human
vrnf cysts The contrast studies in our patients, especially the computed tomographic myelography (CTM), suggest that the meningocoeles in vRNF are, in fact, abnormally dilated and elongated nerve root sleeves and should, therefore, be distinguished from other types 2125803 Human
nf-1 leiomyoma This report describes a case of solitary leiomyoma occurring in a 49 year old woman with NF-1. 12944559 Human
nf-1 leiomyoma Leiomyoma must be considered in the differential diagnosis of spindle cell neoplasms in patients with NF-1. 12944559 Human
nf-1 spindle cell neoplasms Leiomyoma must be considered in the differential diagnosis of spindle cell neoplasms in patients with NF-1. 12944559 Human
neurofibromin uveal melanomas METHODS: Thirty-eight uveal melanomas, as well as normal uveal melanocytes, were examined for NF1 deletions by dual-color fluorescence in situ hybridization, and for expression of the NF1 protein (neurofibromin) by immunohistochemistry and Western blot an 12963615 Human
nf1 uveal melanomas METHODS: Thirty-eight uveal melanomas, as well as normal uveal melanocytes, were examined for NF1 deletions by dual-color fluorescence in situ hybridization, and for expression of the NF1 protein (neurofibromin) by immunohistochemistry and Western blot an 12963615 Human
nf1 tumor syndrome The common region of deletions on the short arm of chromosome 17 is, therefore, clearly distinct from the gene causing von Recklinghausen neurofibromatosis (NF1), a tumor syndrome associated with glial tumors that maps to the long arm of chromosome 17. 2571151 Human
nf1 familial cancer syndromes A marked bias for a paternal origin of new mutations has been reported in other familial cancer syndromes such as neurofibromatosis type 1 (NF1), multiple endocrine neoplasia (MEN) 2B and bilateral retinoblastoma, but it is unclear whether this bias resul 8589692 Human
nf1 bilateral retinoblastoma A marked bias for a paternal origin of new mutations has been reported in other familial cancer syndromes such as neurofibromatosis type 1 (NF1), multiple endocrine neoplasia (MEN) 2B and bilateral retinoblastoma, but it is unclear whether this bias resul 8589692 Human
nf1 malignant gliomas METHODS. A series of intragenic sequence polymorphisms was used to investigate lymphocyte and tumor DNA samples from 22 adults with high grade malignant gliomas for loss of heterozygosity (LOH) at NF1. 8625164 Human
nf1 ependymoma Clear evidence for somatic mutation events at the NF1 gene locus was found in 1 astrocytoma, 2 glioblastomas, 1 ependymoma and 1 PNET with an astrocytic component. 8669813 Human
nf1 renal cancer Examples include the RB1 gene for retinoblastoma; the WT1 gene for Wilms' tumor; germline p53 mutations in families with the Li-Fraumeni syndrome; the NF1 and NF2 genes for neuroblastomatosis, types 1 and 2; the VHL gene for renal cancer and other tu 8741802 Human
nf1 breast and ovarian cancer Examples include the RB1 gene for retinoblastoma; the WT1 gene for Wilms' tumor; germline p53 mutations in families with the Li-Fraumeni syndrome; the NF1 and NF2 genes for neuroblastomatosis, types 1 and 2; the VHL gene for renal cancer and other tu 8741802 Human
nf1 common cancers Examples include the RB1 gene for retinoblastoma; the WT1 gene for Wilms' tumor; germline p53 mutations in families with the Li-Fraumeni syndrome; the NF1 and NF2 genes for neuroblastomatosis, types 1 and 2; the VHL gene for renal cancer and other tu 8741802 Human
nf1 non-hodgkin lymphoma Of particular interest are two cases in which both NF1 and malignant peripheral nerve sheath tumors were present in multiple successive generations: a patient with colon cancer and non-Hodgkin lymphoma who has a constitutional abnormality of the p53 gene, 8259105 Human
nf1 colon cancer Of particular interest are two cases in which both NF1 and malignant peripheral nerve sheath tumors were present in multiple successive generations: a patient with colon cancer and non-Hodgkin lymphoma who has a constitutional abnormality of the p53 gene, 8259105 Human
neurofibromin wilms tumor Although ENU-induced melanoma and Wilms' tumor were negative for neurofibromin, foci of Schwannian differentiation in both primary and transplanted melanomas were positive. 8129040 Human
nf1 chronic myelogenous leukemia Analysis of mutations and expression of GAP-related domain of the neurofibromatosis type 1 (NF1) gene in the progression of chronic myelogenous leukemia. 8207976 Human
nf1 ovarian carcinoma Mutation analysis of RASK and the 'FLR exon' of NF1 in sporadic ovarian carcinoma. 8018414 Human
nf1 colorectal cancer Frequency of allele loss of DCC, p53, RBI, WT1, NF1, NM23 and APC/MCC in colorectal cancer assayed by fluorescent multiplex polymerase chain reaction. 7947085 Human
nf-1 non-hodgkin lymphoma We carried out the first detailed population-based study of leukaemia and non-Hodgkin lymphoma (NHL) associated with NF-1 in order to estimate the risk and elucidate the relationship between these conditions. 7947106 Human
nf1 hereditary cancer syndrome Neurofibromatosis type 1 (NF1) is a hereditary cancer syndrome, characterized by cafe-au-lait skin spots and multiple neurofibromas. 7811291 Human
nf1 malignant glioma Functional and structural abnormalities of the neurofibromatosis 1 (NF1) gene and overexpression of the epidermal growth factor receptor have been associated with expression of the malignant glioma phenotype. 8494908 Human
nf1 t-cell acute lymphoblastic leukemia In her 8 1/2 years of life, a girl with neurofibromatosis type 1 (NF1) developed four sequential primary malignant neoplasms: Wilms tumor, T-cell acute lymphoblastic leukemia, medulloblastoma and acute myeloid leukemia. 8388972 Human
nf1 melanoma Inactivation of the NF1 gene in human melanoma and neuroblastoma cell lines without impaired regulation of GTP.Ras. 8516298 Human
neurofibromin schwannoma In schwannoma cell lines from patients with neurofibromatosis, loss of neurofibromin was previously shown to be associated with impaired regulation of GTP-Ras. 8516298 Human
nf1 melanoma Our analysis of other neural crest-derived tumor cell lines has shown that some melanoma and neuroblastoma cell lines established from tumors occurring in patients without neurofibromatosis contain reduced or undetectable levels of neurofibromin, with con 8516298 Human
neurofibromin melanoma Our analysis of other neural crest-derived tumor cell lines has shown that some melanoma and neuroblastoma cell lines established from tumors occurring in patients without neurofibromatosis contain reduced or undetectable levels of neurofibromin, with con 8516298 Human
neurofibromin melanoma In contrast to the schwannoma cell lines, GTP-Ras was appropriately regulated in the melanoma and neuroblastoma lines that were deficient in neurofibromin, even when c-H-ras was overexpressed in the lines. 8516298 Human
neurofibromin schwannoma In contrast to the schwannoma cell lines, GTP-Ras was appropriately regulated in the melanoma and neuroblastoma lines that were deficient in neurofibromin, even when c-H-ras was overexpressed in the lines. 8516298 Human
nf1 malignant gliomas Low frequency of NF1 gene mutations in malignant gliomas. 8518039 Human
nf1 optic-pathway glioma A retrospective review of the medical records was undertaken in order to assess the relationship between optic pathway glioma, neurofibromatosis type 1 (NF1), radiation therapy, and moyamoya disease. 8315466 Human
nf1 optic-pathway glioma The high incidence of moyamoya disease (three of five cases, or 60%) in patients with NF1 who have undergone radiotherapy suggests a synergistic relationship that should be considered when formulating a treatment plan for NF1 patients with optic pathway g 8315466 Human
nf1 acoustic neuroma CONCLUSIONS: This study has demonstrated that (1) chromosome 22 allele loss is a frequent event in sporadic acoustic neuroma; (2) the minimal region of loss of heterozygosity in acoustic neuroma includes the NF2 gene; (3) the known tumor suppressor genes 8217082 Human
nf1 anaplastic astrocytoma We describe an amino acid substitution in the NF1 GRD, altering Lys-1423, that has occurred in three tumor types: colon adenocarcinoma, myelodysplastic syndrome, and anaplastic astrocytoma, and in one family with neurofibromatosis 1. 1568247 Human
nf1 colon adenocarcinoma We describe an amino acid substitution in the NF1 GRD, altering Lys-1423, that has occurred in three tumor types: colon adenocarcinoma, myelodysplastic syndrome, and anaplastic astrocytoma, and in one family with neurofibromatosis 1. 1568247 Human
nf1 neurofibromatosis type 1 Defects in the NF1 gene have been implicated in the inherited disorder neurofibromatosis type 1, which is characterized by several developmental abnormalities including an increased frequency of benign and malignant tumours of neural crest origin (neurofi 1570015 Human
nf1 human gastric cancer To understand the molecular mechanism of gastric tumorigenesis, the status of neurofibromatosis type 1 (NF1) gene was analyzed in human gastric cancer cell lines. 1520317 Human
nf1 gastric cancer Although the sequencing of the GTPase activating protein (GAP)-related region of NF1 (NF1-GRD) revealed no apparent mutation, the NF1-GRD transcript (type I) and that containing an additional 63 bp insert in the center of NF1-GRD (type II) were equally ex 1520317 Human
nf1 ovarian cysts In addition, we found that women with NF1 were more likely to have reproductive histories suggestive of hypogonadism, including irregular menses, infertility, ovarian cysts, and early menopause. 1908637 Human
nf1 giant-cell granuloma Neurofibromatosis 1: a novel NF1 mutation in an 11-year-old girl with a giant cell granuloma. 12822827 Human
nf1 nevoid-basal-cell-carcinoma syndrome Relative macrocephaly (an OFC greater than the 95th centile for height) was seen in seven of nine probands with the nevoid basal cell carcinoma syndrome (NBCC), eight of 32 non-probands with NBCC, three of four neurofibromatosis type 1 (NF1) probands, and 1910262 Human
nf1 schwannoma NF1 was present in a large molecular mass complex in fibroblast and Schwannoma cell lines and appears to associate with a very large (400-500 kDa) protein in both cell types. 1946460 Human
nf-1 li-fraumeni cancer Overall, heredity played a role in the etiology of CBT in 4% of the study families: four (1.7%) due to known hereditary syndromes (nevoid basal cell carcinoma syndrome and von Recklinghausens neurofibromatosis--NF-1), four (1.7%) with multifactorial inher 1756948 Human
nf-1 nevoid-basal-cell-carcinoma syndrome Overall, heredity played a role in the etiology of CBT in 4% of the study families: four (1.7%) due to known hereditary syndromes (nevoid basal cell carcinoma syndrome and von Recklinghausens neurofibromatosis--NF-1), four (1.7%) with multifactorial inher 1756948 Human
nf1 mds METHODS: In this study, bone marrow specimens that were obtained from previously untreated patients with AML and MDS were examined for ras mutations, and the levels of NF1 protein expression were measured. 12518368 Human
nf-1 nonossifying fibroma We report a case of LDD coexisting with neurofibromatosis type 1 (NF-1) and non-ossifying fibroma. 15841746 Human
nf1 tumors of the central nervous system Clinically, NF1 is characterized by café-au-lait spots, freckling, skin neurofibroma, plexiform neurofibroma, bony defects, Lisch nodules and tumors of the central nervous system. 17351482 Human
nf1 xanthogranuloma Xanthogranuloma (XG) is rarely observed in adults and has been reported to be associated with chronic myelogenous leukaemia (CML) and/or neurofibromatosis type 1 (NF1). 17373983 Human
nf1 chronic myelogenous leukaemia (cml) Xanthogranuloma (XG) is rarely observed in adults and has been reported to be associated with chronic myelogenous leukaemia (CML) and/or neurofibromatosis type 1 (NF1). 17373983 Human
nf-1 alveolar rhabdomyosarcoma We present a 2(1/2)-year-old boy with NF-1 who demonstrated coexisting optic pathway glioma with involvement of the chiasm and optic nerve, orbital alveolar rhabdomyosarcoma and bilateral optic nerve sheath dural ectasia. 16941184 Human
nf-1 optic tract glioma [A follow-up of patients with anterior optic tract glioma concurrent with type 1 neurofibromatosis] Fifty-nine patients with anterior optic tract (AOT) lesion concurrent with type neurofibromatosis (NF-1) were followed up for 1 to 36 years (median 5 years 17217202 Human
nf-1 neuroendocrine tumors This chapter reviews the molecular biology of neuroendocrine tumors, including the roles of MENIN, TSC2, NF-1, vHL, p53, bcl-2, bax, VEGF, IGF, PDGF, EGFR, and mTOR. 17382271 Human
nf1 common cancer Neurofibromatosis type 1 (NF1) is the most common cancer predisposition syndrome affecting the nervous system, with elevated risk for both astrocytoma and peripheral nerve sheath tumors. 17216419 Human
nf 1 necrosis RESULTS: Diagnosis based on localized proton spectroscopy included brainstem glioma, brainstem encephalitis, demyelination, dysmyelination secondary to neurofibromatosis type 1 (NF 1), and possible infection or radiation necrosis. 16983570 Human
nf 1 brainstem glioma RESULTS: Diagnosis based on localized proton spectroscopy included brainstem glioma, brainstem encephalitis, demyelination, dysmyelination secondary to neurofibromatosis type 1 (NF 1), and possible infection or radiation necrosis. 16983570 Human
nf1 familial cancer syndrome Case report. Neurofibromatosis type 1 (NF1) is the most common familial cancer-predisposing syndrome in humans, for which the gene (NF1) and its gene product (neurofibromin) have been identified. 8622163 Human
neurofibromin familial cancer syndrome Case report. Neurofibromatosis type 1 (NF1) is the most common familial cancer-predisposing syndrome in humans, for which the gene (NF1) and its gene product (neurofibromin) have been identified. 8622163 Human
nf1 juvenile myeloid leukemia BACKGROUND. Patients with neurofibromatosis type 1 (NF1) are at increased risk for developing malignant neural crest tumors and juvenile myeloid leukemia. 8625164 Human
nf1 soft-tissue sarcomas BACKGROUND: Patients affected by neurofibromatosis type 1 (NF1) are at higher risk of developing soft-tissue sarcomas (STS) than the general population. 17330850 Human
nf1 intracranial tumours A long-term follow-up. AIM: Optic pathway gliomas (OPG) are the predominant intracranial tumours associated with neurofibromatosis type 1 (NF1). 17301720 Human
nf1 medulloblastoma In her 8 1/2 years of life, a girl with neurofibromatosis type 1 (NF1) developed four sequential primary malignant neoplasms: Wilms tumor, T-cell acute lymphoblastic leukemia, medulloblastoma and acute myeloid leukemia. 8388972 Human
nf1 pediatric cancer Thirty-two cases of neurofibromatosis Type I (NF1) were identified among 6,678 pediatric cancer patients treated at St. 8259105 Human
nf1 skin tumors Bovine cutaneous neurofibromatosis is a naturally occurring disease in this group of animals, characterized by skin tumors morphologically identical to those of NF1. 7977647 Cow
nf1 colorectal tumours A number of known or putative tumour-suppressor genes including NF1, BRCA1, NME1, NME2 and prohibitin are present on the long arm of chromosome 17, and this region has not been extensively analysed in colorectal tumours. 7734302 Human
nf1 childhood brain tumors Analysis of the GAP-related domain of the neurofibromatosis type 1 (NF1) gene in childhood brain tumors. 7657385 Human
nf1 neural tumor In vitro editing and transfection assays demonstrated that apoB and NF1 RNA editing will take place in both neural tumor and hepatoma cells. 8602361 Human
nf1 high grade tumors To determine whether loss of NF1 expression is associated with progression towards malignancy in sporadic astrocytomas from individuals without NF1, twenty-eight fresh astrocytoma operative specimens (low and high grade tumors) and seven primary human ast 8668337 Human
nf1 hereditary breast and ovarian cancer Examples include the RB1 gene for retinoblastoma; the WT1 gene for Wilms' tumor; germline p53 mutations in families with the Li-Fraumeni syndrome; the NF1 and NF2 genes for neuroblastomatosis, types 1 and 2; the VHL gene for renal cancer and other tu 8741802 Human
nf1 visual pathway gliomas PURPOSE: The authors emphasize the potential for the development of anterior visual pathway gliomas, evidenced by computed tomography (CT) or magnetic resonance imaging (MRI) scans, in neurofibromatosis type 1 (NF1) patients who previously had normal neur 9186431 Human
nf1 intracranial tumors The incidence of tumor complications, particularly plexiform neurofibromas and intracranial tumors, among this group of patients is higher than the observed incidence in our NF1 population, suggesting that NF1 haploinsufficiency may cause a more severe ph 9187663 Human
nf1 brain stem tumours We describe the clinical and imaging findings of brain stem tumours in patients with neurofibromatosis type 1 (NF1). 9335063 Human
nf1 brain stem tumour The NF1 patients imaged between January 1984 and January 1996 were reviewed and 25 patients were identified with a brain stem tumour. 9335063 Human
nf1 brain stem tumour Brain stem tumour identification occurred much later than the clinical diagnosis of NF1. 9335063 Human
nf1 brain stem tumours The biological behaviour of brain stem tumours in NF1 is unknown. 9335063 Human
nf1 thoracic tumors Thoracic tumors have been infrequently reported as a complication of neurofibromatosis-1 (NF1). 9342207 Human
nf1 thoracic tumors To determine the prevalence and clinical features of thoracic tumors seen in children with NF1, we reviewed medical records and imaging studies for a group of 260 pediatric patients with NF1 followed in a multidisciplinary NF Center. 9342207 Human
nf1 thoracic tumors Extrapleural thoracic tumors were seen in nine patients with NF1, corresponding to a prevalence of 3.5% in this hospital-based series of patients. 9342207 Human
nf1 thoracic tumors We conclude that NF1 patients presenting with any of these signs and symptoms should be screened for thoracic tumors with chest X-ray and magnetic resonance imaging as needed. 9342207 Human
nf1 skin tumor To test if NF1 can play a part in skin tumor formation, we analyzed effects of the skin cancer initiator dimethylbenz-anthracene and/or the tumor promoter 12-O-tetradecanoyl-13-acetylphorbol on mice heterozygous for null mutations in Nf1 (Nf1+/-). 10844550 Human
nf1 cancer predisposition syndrome Neurofibromatosis 1 (NF1) is a common autosomal dominant cancer predisposition syndrome, in which 15% to 20% of affected individuals develop astrocytomas. 11005256 Human
nf1 cervical tumors PURPOSE: The purposes of this study were to determine the incidence and clinical significance of cervical tumors seen on MR imaging in children with NF1. 10382213 Human
nf1 cervical tumors CONCLUSION: Cervical tumors are commonly seen in children with NF1. 10382213 Human
nf1 brainstem gliomas Optic pathway gliomas and brainstem gliomas are the predominant intracranial neoplasms associated with neurofibromatosis type 1 (NF1). 10469435 Human
nf1 spinal tumours In neurofibromatosis type 1 (NF1) spinal tumours cause neurological symptoms in about 2 % of patients. 10525761 Human
nf1 spinal tumours Among over 1400 patients with NF1 we saw symptomatic spinal tumours in 23 (1.6 %). 10525761 Human
nf1 spinal tumours In patients who do not satisfy the NIH criteria, it can be a helpful observation that spinal tumours in NF1 are primarily intraforaminal, extending into the spinal canal, while in NF2 they are mostly intraspinal intradural tumours. 10525761 Human
nf1 spinal tumors Three patients have multiple spinal tumors and no café-au-lait macules, and the fourth has no clinical signs of NF1. 11704931 Human
nf1 spinal tumors This demonstrates that typical NF1 null mutations can result in a phenotype that is distinct from classical NF1, showing only a small spectrum of the NF1 symptoms, such as multiple spinal tumors, but not completely fitting the current clinical criteria fo 11704931 Human
nf1 malignant nervous system tumors Neurofibromatosis type 1 (NF1) is a dominant genetic disorder characterized by multiple benign and malignant nervous system tumors, and by learning defects in 45% of children with NF1 mutations. 11788835 Human
nf1 neural tumor Composite tumor of pheochromocytoma and neuroblastoma, or ganglioneuroma, or ganglioneuroblastoma (composite pheochromocytoma), also known as mixed neuroendocrine and neural tumor, are sometimes combined with neurofibromatosis type 1 (NF1). 11904334 Human
nf1 cns tumors We advocate yearly clinical and neuroradiological follow-up over a long period in NF1 children, since they may develop additional CNS tumors during their lifetime. 11935243 Human
nf1 familial cancers The requirement for a permissive haploinsufficient environment to allow tumorigenesis may have therapeutic implications for NF1 and other familial cancers. 11988578 Human
nf1 cns tumour Only optic glioma cases with NF1 were at risk of developing a second CNS tumour. 12089128 Human
nf1 transitional cell carcinomas of the bladder Kinetic profiles by topographic compartments in muscle-invasive transitional cell carcinomas of the bladder: role of TP53 and NF1 genes. 12109862 Human
nf1 malignant tumors of the peripheral nervous system The human disease neurofibromatosis type 1 (NF1) is caused by mutations in the NF1 gene, and is characterized by the formation of benign and malignant tumors of the peripheral nervous system. 12154062 Human
nf1 cns tumours Prognostic factors of CNS tumours in Neurofibromatosis 1 (NF1): a retrospective study of 104 patients. 12477702 Human
nf1 cns tumours In addition to multiple peripheral neurofibromas, Neurofibromatosis 1 (NF1) predisposes to CNS tumours. 12477702 Human
nf1 cns tumour Inclusion criteria were a diagnosis of NF1, according to the National Institutes of Health criteria, and the presence of a CNS tumour, regardless of type, location or age of onset. 12477702 Human
nf1 aml METHODS: In this study, bone marrow specimens that were obtained from previously untreated patients with AML and MDS were examined for ras mutations, and the levels of NF1 protein expression were measured. 12518368 Human
nf1 pulmonary sarcoma Pulmonary sarcoma complicated with neurofibromatosis type 1 (NF1). 12680156 Human
nf1 disseminated neuroblastoma Homozygous inactivation of NF1 gene in a patient with familial NF1 and disseminated neuroblastoma. 12687660 Human
nf1 disseminated neuroblastoma In the present study we describe a child with NF1 and disseminated neuroblastoma whose death resulted from disease progression. 12687660 Human
nf1 neural tumors The hallmark of NF1 is development of neural tumors. 12828709 Human
nf1 visual pathway gliomas We believe that patients with anterior visual pathway gliomas, particularly those with NF1, should not be treated unless there is clear clinical or neuroimaging evidence of progression. 12849878 Human
nf1 benign schwannomas Evaluation of NF2 and NF1 tumor suppressor genes in distinctive gastrointestinal nerve sheath tumors traditionally diagnosed as benign schwannomas: s study of 20 cases. 13679444 Human
nf1 gi tumors Chromosomes 22 and 17, particularly NF2 and NF1 loci, were analyzed for LOH in all GI tumors and for comparative purposes in 10 conventional schwannomas. 13679444 Human
nf1 gist The whole coding region of the c-kit cDNA and the whole coding region of the NF1 cDNA were amplified and directly sequenced after RNA extraction and cDNA synthesis in three fresh GIST tissues from two NF1 patients and ten fresh GIST tissues from ten non-N 14694524 Human
nf1 optic nerve gliomas In contrast to astrocyte-restricted Nf1 conditional knockout mice, Nf1+/- mice lacking Nf1 in astrocytes develop optic nerve gliomas. 14695164 Mouse
nf1 intracranial meningioma Neurofibromatosis type 2 is much less common than neurofibromatosis type 1 (NF1), with a symptomatic prevalence of 1 in 210,000,(2) and, to the authors' knowledge, only six cases of NF2 with multiple plexiform schwannomas have been reported in the li 15117362 Human
nf1 multiple endocrine neoplasia type 2a Seventeen of these patients, with a hereditary form of the disease, presented with 23 phaeochromocytomas [three neurofibromatosis type 1 (NF1), five von Hippel-Lindau disease (VHL), eight multiple endocrine neoplasia type 2A (MEN2A) and one type 2B (MEN2B 15212651 Human
nf1 cns lymphoma CONCLUSION: This is the first report of CNS lymphoma in a patient with NF1. 15255115 Human
nf1 pediatric neoplasms Other genetic constructs in mice involving the genes p53, ptc1, and Nf1 have produced tumors remarkably similar to some of the human pediatric neoplasms. 15313589 Mouse
nf1 astrocytoma Susceptibility to astrocytoma in mice mutant for Nf1 and Trp53 is linked to chromosome 11 and subject to epigenetic effects. 15319471 Mouse
nf1 astrocytoma We have shown previously that mice mutant for Trp53 and Nf1 develop astrocytoma, progressing to glioblastoma, on a C57BL/6J strain background. 15319471 Mouse
nf1 glioblastoma We have shown previously that mice mutant for Trp53 and Nf1 develop astrocytoma, progressing to glioblastoma, on a C57BL/6J strain background. 15319471 Mouse
nf1 astrocytoma In contrast, here we present data that mice mutant for Trp53 and Nf1 on a 129S4/SvJae background are highly resistant to developing astrocytoma. 15319471 Mouse
nf1 astrocytoma Through analysis of F1 progeny, we demonstrate that susceptibility to astrocytoma is linked to chromosome 11, and that the modifier gene(s) responsible for differences in susceptibility is closely linked to Nf1 and Trp53. 15319471 Mouse
nf1 common tumors Nerve sheath tumors are the most common tumors of Neurofibromatosis type 1 (NF1) patients. 15446580 Human
nf1 juvenile polyp We report a case that draws attention to a hitherto undescribed association of neurofibromatosis type 1 (NF1) with juvenile polyp, congenital intrahepatic portosystemic venous shunt, multiple subcutaneous lipomas, and horseshoe kidney. 15150783 Human
nf1 lipomas We report a case that draws attention to a hitherto undescribed association of neurofibromatosis type 1 (NF1) with juvenile polyp, congenital intrahepatic portosystemic venous shunt, multiple subcutaneous lipomas, and horseshoe kidney. 15150783 Human
nf1 nevus We present a boy fulfilling the diagnostic criteria for NF1 with two unusual lesions: infantile myofibromatosis and a verrucous epidermal nevus. 15459537 Human
nf1 schwannomatosis Included in this appraisal is a search for a pre-disposition syndrome, the most common of which are neurofibromatosis-1 and -2 (NF1, NF2) and schwannomatosis, which may require life-long careful follow up. 15527099 Human
nf1 giant cell glioblastoma Heavily lipidized, calcified giant cell glioblastoma in an 8-year-old patient, associated with neurofibromatosis type 1 (NF1): report of a case with long-term survival. 15584213 Human
nf1 giant cell glioblastoma The coexistence of intracerebral heavily lipidized, calcified giant cell glioblastoma with NF1 has not been previously reported in literature. 15584213 Human
nf1 breast tumor Loss of heterozygosity (LOH) analyses of the breast tumor revealed LOH in the NF1 region. 15588864 Human
nf1 optic-pathway glioma Children affected with the inherited tumor predisposition syndrome, neurofibromatosis 1 (NF1), are prone to the development of low-grade astrocytic optic pathway tumors (optic pathway glioma [OPG]). 15622533 Human
nf1 pleomorphic xanthoastrocytoma The authors report an unusual case of multicentric pleomorphic xanthoastrocytoma (PXA) in a 36-year-old woman with neurofibromatosis Type 1 (NF1). 15739569 Human
nf1 familial cancer syndromes Phaeochromocytoma is a neural-crest-derived tumour that may be a feature of several familial cancer syndromes including von Hippel-Lindau (VHL) disease, multiple endocrine neoplasia type 2 (MEN 2), neurofibromatosis type 1 (NF1) and germline succinate deh 15788647 Human
nf1 optic nerve gliomas This mTOR pathway hyperactivation was reflected by high levels of ribosomal S6 activation in both Nf1 mutant mouse optic nerve gliomas and in human NF1-associated pilocytic astrocytoma tumors. 15805275 Mouse
nf1 pilocytic astrocytoma This mTOR pathway hyperactivation was reflected by high levels of ribosomal S6 activation in both Nf1 mutant mouse optic nerve gliomas and in human NF1-associated pilocytic astrocytoma tumors. 15805275 Human
nf1 acute leukemia Repeated Sequences in CASPASE-5 and FANCD2 but not NF1 Are Targets for Mutation in Microsatellite-Unstable Acute Leukemia/Myelodysplastic Syndrome. 15886296 Human
nf1 familial cancer syndrome Loss-of-function mutations in the NF1 tumor suppressor gene underlie the familial cancer syndrome neurofibromatosis type I (NF1). 15937108 Human
nf1 acute leukemia Given that the RUNX1 transcription factor is the most common target for chromosomal translocations in acute leukemia, we asked if NF1 might be regulated by RUNX1. 15988004 Human
nf1 sporadic colon cancer NF1 gene loss of heterozygosity and expression analysis in sporadic colon cancer. 15840687 Human
nf1 sporadic colon cancer This is the first study to investigate the role of NF1 in sporadic colon cancer. 15840687 Human
nf1 malignant nervous system tumours Neurofibromatosis type 1 (NF1) is a common genetic condition in which affected individuals develop benign and malignant nervous system tumours. 16069817 Human
nf1 pleomorphic xanthoastrocytoma We describe a case of cerebellar pleomorphic xanthoastrocytoma (PXA) occurring in a patient with neurofibromatosis type 1 (NF1). 15289955 Human
nf1 malignant astrocytoma Early inactivation of p53 tumor suppressor gene cooperating with NF1 loss induces malignant astrocytoma. 16098465 Human
the nf1 cdna gist The whole coding region of the c-kit cDNA and the whole coding region of the NF1 cDNA were amplified and directly sequenced after RNA extraction and cDNA synthesis in three fresh GIST tissues from two NF1 patients and ten fresh GIST tissues from ten non-N 14694524 Human
the nf1 gene neurofibromatosis type 1 Defects in the NF1 gene have been implicated in the inherited disorder neurofibromatosis type 1, which is characterized by several developmental abnormalities including an increased frequency of benign and malignant tumours of neural crest origin (neurofi 1570015 Human
the nf1 gene neuroblastoma Inactivation of the NF1 gene in human melanoma and neuroblastoma cell lines without impaired regulation of GTP.Ras. 8516298 Human
the nf1 gene melanoma Inactivation of the NF1 gene in human melanoma and neuroblastoma cell lines without impaired regulation of GTP.Ras. 8516298 Human
the nf1 gene neural tumors The NF1 gene seems to increase the risk not only for neural tumors but also for some non-neural tumors in an age-specific, organ-dependent pattern of carcinogenesis. 8402499 Human
the nf1 gene encephalocraniocutaneous lipomatosis Encephalocraniocutaneous lipomatosis with a mutation in the NF1 gene. 7643367 Human
the nf1 gene eccl Although it is possible that both ECCL and NF1 occur coincidentally in this patient, we favour the hypothesis that in exceptional cases a mutation in the NF1 gene might give rise to severe congenital malformations such as ECCL. 7643367 Human
the nf1 gene lymphomas Frequent disruption of the Nf1 gene by a novel murine AIDS virus-related provirus in BXH-2 murine myeloid lymphomas. 7474134 Mouse
the nf1 gene ependymoma Clear evidence for somatic mutation events at the NF1 gene locus was found in 1 astrocytoma, 2 glioblastomas, 1 ependymoma and 1 PNET with an astrocytic component. 8669813 Human
the nf1 gene chronic myelomonocytic leukemia The transient thrombocythemia may relate to a regulator of megakaryocytopoiesis located in the vicinity of the NF1 gene or to the excessive risk of chronic myelomonocytic leukemia in neurofibromatosis. 9042140 Human
the nf1 gene plexiform neurofibroma Clonal origin of tumor cells in a plexiform neurofibroma with LOH in NF1 intron 38 and in dermal neurofibromas without LOH of the NF1 gene. 9177273 Human
the nf1 gene colon carcinoma Mutations involving the GRD region of the NF1 gene (GRD-NF1) have been described in a variety of tumors such as colon carcinoma and astrocytoma. 9783802 Human
the nf1 gene anal malignant melanoma Allelic loss of the NF1 gene in anal malignant melanoma in a patient with neurofibromatosis type 1. 11706558 Human
the nf1 gene anorectal malignant melanoma Anorectal malignant melanoma in NF1 is extremely rare, and genetic studies of the NF1 gene in such patients have not been reported. 11706558 Human
the nf1 gene tumor syndrome Individuals with the neurofibromatosis 1 (NF1) inherited tumor syndrome develop low-grade gliomas (astrocytomas) at an increased frequency, suggesting that the NF1 gene is a critical growth regulator for astrocytes. 12077339 Human
the nf1 gene malignant tumors of the peripheral nervous system The human disease neurofibromatosis type 1 (NF1) is caused by mutations in the NF1 gene, and is characterized by the formation of benign and malignant tumors of the peripheral nervous system. 12154062 Human
the nf1 gene colon cancer CONCLUSIONS: Our findings suggest that the NF1 gene may play a role in the development and progression of colon cancer and the NF1 gene may be a potential tumour marker and a new potential target for colon cancer therapy. 15840687 Human
the nf1 protein lymphomas The observed cooperation in in vivo lymphomagenesis between N-ras overexpression and NF1 inactivation emphasizes the importance of searching for additional functions for the NF1 protein and of intensifying the screening for NF1 mutations in human lymphoma 9796699 Human
vrnf duodenal somatostatinoma A case of a patient affected by VRNF associated with duodenal somatostatinoma with consequent obstructive jaundice is reported. 15258554 Human
vrnf duodenal somatostatinoma A total of 27 patients with Von Recklinghausen's disease associated with immunohistologically proved duodenal somatostatinoma have been identified and compared with 29 duodenal somatostatinoma not associated with VRNF, and with 32 cases of pancreatic 15258554 Human
nf1 facial plexiform neurofibroma The relation between the size and extension of the orbital, eyelid and facial plexiform neurofibroma and the degree of asymmetry of the hemispheric hyperplasia suggest that different influences of a still unknown agent, possibly a gene, obviously related 16981165 Human
nf1 central giant cell granulomas (cgcgs) Kerl first reported an association of NF1 with multiple central giant cell granulomas (CGCGs) of the jaws. 17138179 Human
nf1 familial cancer syndrome Neurofibromatosis (NF) type I (NF1) is the most common familial cancer-predisposing syndrome in humans, while type 2 (NF2) accounts for an extremely small percentage of the total cases of NF. 14692188 Human
nf1 li-fraumeni cancer syndrome The author reviewed five hereditary neurological tumor syndromes associated with gliomas: Li-Fraumeni cancer syndrome, neurofibromatosis type 1 (NF1) and type 2 (NF2), tuberous sclerosis (TS), and Turcot syndrome. 17168501 Human
nf1 tumor syndromes The author reviewed five hereditary neurological tumor syndromes associated with gliomas: Li-Fraumeni cancer syndrome, neurofibromatosis type 1 (NF1) and type 2 (NF2), tuberous sclerosis (TS), and Turcot syndrome. 17168501 Human
neurofibromin adrenal gland tumors Loss of neurofibromin in adrenal gland tumors from patients with neurofibromatosis type I. 7519874 Human
neurofibromin soft-tissue tumours Reduced expression of neurofibromin in the soft tissue tumours obtained from patients with neurofibromatosis type I. 1. 7614817 Human
neurofibromin ependymomas Immunohistochemical detection of schwannomin and neurofibromin in vestibular schwannomas, ependymomas and meningiomas. 9100669 Human
neurofibromin ependymomas All tumors showed staining with an antibody to a C-terminal peptide of neurofibromin, confirming that full-length neurofibromin is present in these vestibular schwannomas, meningiomas, and ependymomas. 9100669 Human
neurofibromin peripheral primitive neuroectodermal tumour Contrasting levels of p21ras activation and expression of neurofibromin in peripheral primitive neuroectodermal tumour and neuroblastoma cells, and their response to retinoic acid. 9619634 Human
neurofibromin ppnet In pPNET cells levels of type 1 GAP120 but not neurofibromin mRNA were increased to similar levels to those in neuroblastoma cells. 9619634 Human
nf-1 tumors of meninges NF-1 seems to be associated with tumors of astrocytes and neurons and NF-2 with tumors of meninges and Schwann cells. 2501822 Human
nf-1 acoustic nerve tumors This patient is one of a few adequately described cases who clinically meets diagnostic criteria for NF-1 and has bilateral acoustic nerve tumors. 2517814 Human
nf-1 visual pathway gliomas Two patients, a 5-year-old girl and a 3-year-old boy, with documented neurofibromatosis (NF-1) and visual pathway gliomas are reported. 2517816 Human
nf-1 intracranial tumors In NF-1 patients with FPN there seems to be a high incidence of intracranial tumors and possibly of arachnoid cysts. 2518508 Human
nf-1 cns tumors Clinical manifestations of NF-1 include: generalized cutaneous neurofibroma, pigmented skin patches (cafe-au-lait spots), pigmented iris hamartoma (Lisch nodules), skeletal abnormally, CNS tumors, etc. 1795416 Human
nf-1 benign tumors Loss of constitutional heterozygosity has not been reported in the benign tumors associated with NF-1, however, and has only been detected in a few malignant neural-crest tumors and in some tumor-derived cell lines. 8302341 Human
nf-1 cmml CMML occurred predominantly in boys, who also had a family history of NF-1. 7947106 Human
nf-1 germ cell tumor Longitudinal evaluation for the possibility of neoplasm, especially germ cell tumor, in basal ganglion lesions in NF-1 patients is necessary. 7585682 Human
nf-1 optic nerve tumors Both isolated and bilateral optic nerve tumors were found exclusively in children with NF-1, whereas chiasmal (p = 0.016) and optic tract involvement (p = 0.001) were more common in those with non-NF-1 OPT. 7472822 Human
nf-1 intracranial tumors The goals of this article are to trace the evolution of the concept of NF-2 as a distinct clinical entity from NF-1 and to assess the early awareness of and attitudes toward bilateral ANs, familial ANs, and ANs associated with other intracranial tumors. 8906061 Human
nf-1 spinal cord tumour We investigated the characteristic features of intramedullary spinal cord tumour associated with neurofibromatosis type 1 (NF-1). 9442220 Human
nf-1 spinal cord tumour 6 cases of NF-1 associated with intramedullary spinal cord tumour based on the above diagnostic criteria have so far been reported, including our 2 cases. 9442220 Human
nf-1 spinal cord tumour This finding suggested that intramedullary spinal cord tumour associated with NF-1 tends to occur predominantly in males and that histopathologically the tumour is likely to be an astrocytoma. 9442220 Human
nf-1 spinal cord tumour We conclude that the criteria proposed by the National Institute of Health Consensus Development Conference are contributory in making an accurate pre-operative pathological diagnosis of intramedullary spinal cord tumour associated with NF-1. 9442220 Human
nf-1 stromal tumors Type-1 neurofibromatosis (NF-1) or Von Recklinghausen disease is an autosomal dominant hereditary condition that may affect the gastrointestinal tract in 25% of cases and which takes three main forms: ganglioneuromatosis, stromal tumors, and tumors in the 10232882 Human
nf-1 stromal tumor We present the case of a 48-year-old patient diagnosed as having NF-1, with relapsing episodes of gastrointestinal hemorrhage, in which we discovered the simultaneous presence of a stromal tumor in the jejunum together with polypoid and diffuse ganglioneu 10232882 Human
nf-1 skin tumour FA1 was found in the spindle cells of all (n = 10) skin tumour specimens from adult NF-1 patients, whereas normal dermis was FA1 negative. 10354070 Human
nf-1 stromal tumors Periampullary tumors in patients affected by Neurofibromatosis Type 1 (NF-1) are usually carcinoids or stromal tumors and, rarely, adenocarcinomas. 11706080 Human
nf-1 medulloblastoma We review the current literature and suggest that the association of medulloblastoma with NF-1 is not a chance occurrence, and that it might be pathogenically related. 12058604 Human
nf-1 medulloblastoma We propose that medulloblastoma should be added to the list of malignancies that are apt to occur in NF-1. 12058604 Human
nf-1 retinal tumors BACKGROUND: Retinal tumors are occasionally seen in patients with neurofibromatosis type-1 (NF-1). 12201346 Human
nf-1 adrenal pheochromocytomas RESULTS: Adrenal pheochromocytomas were present in 56 of 59 patients (95%): MEN2A (39), MEN2B (7), VHL (6), MEN1 (2), NF-1 (2). 15051000 Human
nf-1 extraadrenal pheochromocytomas Paragangliomas (extraadrenal pheochromocytomas) were present in the remaining 3 of 59 patients (5%): FP (2) and NF-1 (1). 15051000 Human
nf-1 central nervous system tumours Von Recklinghausen's disease, now classified as neurofibromatosis type 1 (NF-1), is a relatively frequent autosomal dominant disorder and has clinical manifestations, such as cafe-au-lait spots, freckling, generalised cutaneus neurofibroma, Lisch nod 15635820 Human
nf-1 gastrointestinal tumour In adults, anaemia in the course of NF-1 is usually due to gastrointestinal tumour bleeding. 15635820 Human
nf-1 epithelioid hemangioendothelioma Epithelioid hemangioendothelioma and multiple thoraco-lumbar lateral meningoceles: two rare pathological entities in a patient with NF-1. 15688204 Human
nf-1 soft-tissue sarcoma Neurofibromatosis type I (NF-1) is a genetic syndrome associated with soft tissue sarcoma and higher risk of developing neoplasia. 15688204 Human
nf-1 fibroma We report a case of LDD coexisting with neurofibromatosis type 1 (NF-1) and non-ossifying fibroma. 15841746 Human
nf-1 hematological malignancies When eosinophilia is diagnosed in patients with NF-1, eosinophilic end-organ damage, particularly cardiac involvement, in addition to hematological malignancies, should be screened for in order to start medical treatment at the early stage of the disease. 15912309 Human
nf-1 gastrointestinal neoplasms NF-1 is known to be associated with gastrointestinal neoplasms in 2-25 per cent of patients. 16022006 Human
nf-1 gastrointestinal neoplasms Patients with NF-1 and GI symptoms are at risk for gastrointestinal neoplasms from which symptomatic patients are likely to experience significant morbidity. 16022006 Human
nf-1 melanocytic nevi Background: Neurofibromatosis, type 1, is associated with cutaneous melanin pigmentation, but an association with ordinary melanocytic nevi has not been described. 16115049 Human
nf-1 melanocytic nevi Methods: This retrospective case-control study was designed to see if neurofibromas in patients with neurofibromatosis, type 1 (NF-1) differ from sporadic neurofibromas (SN) in their incidence of associated melanocytic nevi and other histologic features. 16115049 Human
nf-1 melanocytic nevi Slides from 114 NF-1 were compared with 112 SN and 300 intradermal melanocytic nevi (IDN). 16115049 Human
vrnf carcinoid [Multiple duodenal and ampullary carcinoids and von Recklinghausen's neurofibromatosis] A clinical case of multiple duodenal carcinoid involving the ampulla in a woman with von Recklinghausen's neurofibromatosis (VRNF) is described. 3149916 Human
vrnf somatostatinoma While many more duodenal carcinoids need to be investigated systematically for their immunocytochemical profile, detection of a pure somatostatinoma in the duodenum should alert one to the possibility of coexistent VRNF. 2422964 Human
neurofibromin wilms' tumor Although ENU-induced melanoma and Wilms' tumor were negative for neurofibromin, foci of Schwannian differentiation in both primary and transplanted melanomas were positive. 8129040 Human
nf1 small cell lung carcinoma (sclc) The incidence of small cell lung carcinoma (SCLC) as a complication of NF1, however, is rare. 8094318 Human
nf1 sclc To clarify the relationship between NF1 and SCLC, possible loss of heterozygosity of chromosome 17 in a patient with SCLC combined with NF1 was analyzed. 8094318 Human
nf1 sclc CONCLUSIONS. The formation of SCLC may result from several genetic alterations, including inactivation of tumor-suppressor gene on chromosome 17p, most likely P53, although it still is unknown whether or not a mutation of the NF1 gene on 17q was involved 8094318 Human
nf1 neural tumors The NF1 gene seems to increase the risk not only for neural tumors but also for some non-neural tumors in an age-specific, organ-dependent pattern of carcinogenesis. 8402499 Human
nf1 malignant melanoma of the choroid [Malignant melanoma of the choroid associated with neurofibromatosis] A sixteen-year-old white girl with peripheral neurofibromatosis (NF1), who had been treated for a glioma of the optic nerves and chiasma developed a choroidal mass in her only functiona 8496569 Human
nf1 optic tract gliomas Type 1, NF1 or von Recklinghausen's disease, consists of skin and bone lesions as well as central nervous system tumours arising at the expense of glial tissue: optic tract gliomas, glioblastomas, astrocytomas and "hamartomas". 1300092 Human
nf1 neuroma Apropos of two cases and review of the literature] We report two cases of trigeminal neuroma in patients with Von Recklinghausen neurofibromatosis (NF1). 1303603 Human
nf1 endocrine tumors The prevalence of secondary neoplasia and endocrine tumors in NF1 is also discussed. 1649534 Human
nf1 nevoid basal cell carcinoma syndrome Relative macrocephaly (an OFC greater than the 95th centile for height) was seen in seven of nine probands with the nevoid basal cell carcinoma syndrome (NBCC), eight of 32 non-probands with NBCC, three of four neurofibromatosis type 1 (NF1) probands, and 1910262 Human
nf-1 acoustic neuromas [Central nervous findings in neurofibromatosis] Neurofibromatosis (NF) is subdivided into at least two different forms: NF-1, which is characterized by café-au-lait spots, cutaneous neurofibromas, Lisch nodules and osseous dysplasias, and NF-2, the hallm 1584968 Human
nf-1 familial adenomatous polyposis Three other genes associated with the inherited cancer syndromes neurofibromatosis type I (NF-1) and familial adenomatous polyposis have been cloned and partially characterized. 1591284 Human
nf-1 inherited cancer syndromes Three other genes associated with the inherited cancer syndromes neurofibromatosis type I (NF-1) and familial adenomatous polyposis have been cloned and partially characterized. 1591284 Human
nf1 mpd Children with NF1 are predisposed to juvenile myelomonocytic leukemia (JMML) and lethally irradiated mice given transplants with homozygous Nf1 mutant (Nf1-/-) hematopoietic stem cells develop a fatal myeloproliferative disorder (MPD) that models JMML. 17090653 Human
nf1 mpd We investigated the requirement for signaling through the GM-CSF receptor to initiate and sustain this MPD by generating Nf1 mutant hematopoietic cells lacking the common beta chain (Beta c) of the GM-CSF receptor. 17090653 Mouse
nf1 mpd Mice reconstituted with Nf1-/-, beta c-/- stem cells did not develop evidence of MPD despite the presence of increased number of immature hematopoietic progenitors in the bone marrow. 17090653 Mouse
nf1 mpd Interestingly, when the Mx1-Cre transgene was used to inactivate a conditional Nf1 mutant allele in hematopoietic cells, concomitant loss of beta c-/- reduced the severity of the MPD, but did not abrogate it. 17090653 Human
nf1 optic pathway glioma A retrospective review of the medical records was undertaken in order to assess the relationship between optic pathway glioma, neurofibromatosis type 1 (NF1), radiation therapy, and moyamoya disease. 8315466 Human
nf1 optic pathway glioma The high incidence of moyamoya disease (three of five cases, or 60%) in patients with NF1 who have undergone radiotherapy suggests a synergistic relationship that should be considered when formulating a treatment plan for NF1 patients with optic pathway g 8315466 Human
nf1 acoustic tumors Other signs of NF1 or NF2, such as cutaneous tumors, Lisch nodules, or acoustic tumors, were absent. 1745350 Human
nf-1 optic pathway tumors Carboplatin is a promising agent for the treatment of optic pathway tumors in children with NF-1. 8413004 Human
nf-1 juvenile chronic myelomonocytic leukemia A 9-month-old boy with known familial neurofibromatosis type I (NF-1) presented with a clinical and laboratory picture suggestive of juvenile chronic myelomonocytic leukemia (JCMMoL). 1793161 Human
nf-1 posterior fossa meningioma The first two met the diagnostic criteria for NF-1, although case 2 had a posterior fossa meningioma, which is an uncommon finding in this group. 1905940 Human
nf 1 cerebral tumour [Epileptic seizure as the first neurologic symptom of Recklinghausen disease in a 10-year old boy with a brain tumor] Epileptic seizure as the first neurological symptom in von Recklinghausen disease (Neurofibromatosis type 1, NF 1) in 10 year old boy wit 11247415 Human
nf 1 familial adenomatous polyposis (fap) [Positional cloning of genes responsible for hereditary tumors] Recently, remarkable progress in molecular biology has enabled isolation of genes responsible for hereditary tumors such as retinoblastoma (RB), Wilms' tumor (WT), von Recklinghausen neu 1346083 Human
nf 1 fibromatosis About 10 years known are the RET gene susceptible for multiple endocrine neoplasia type 2, the VHL gene for von Hippel-Lindau Disease, and the NF 1 gene for neurofibromatosis Recklinghausen (neuro- fibromatosis type 1). 15832076 Human
neurofibromin soft tissue tumours Reduced expression of neurofibromin in the soft tissue tumours obtained from patients with neurofibromatosis type I. 1. 7614817 Human
neurofibromin soft tissue tumours We analysed the expression of neurofibromin mRNAs, encoded by the gene responsible for neurofibromatosis type 1, and of neurofibromin protein in nine soft tissue tumours by S1 nuclease mapping and Western blot analyses. 7614817 Human
neurofibromin squamous cell carcinomas Further studies concentrated on neurofibromin expression in basal cell and squamous cell carcinomas. 7637322 Human
neurofibromin neuroendocrine tumors An explanation for the high prevalence of neuroendocrine tumors in NvR might be the loss of neurofibromin, a tumor suppressor protein, which is the main product of the neurofibromatosis-l-gene. 9577907 Human
neurofibromin peripheral primitive neuroectodermal tumour (ppnet) In this study the relationship between p21ras, type 1 GAP120 and neurofibromin with growth and differentiation has been examined in neuroblastoma and peripheral primitive neuroectodermal tumour (pPNET) cell lines. 9619634 Human
nf 1 acoustic neuroma The typical NF 1 patient has café-au-lait spots, melanin pigmentation and palpable neurofibromas, while NF 2 has its onset with the development of tinnitus or hearing loss, due to the presence of bilateral acoustic neuroma. 8538027 Human
nf1 non-hodgkin's lymphoma A young child with neurofibromatosis type 1 (NF1) is reported who developed two primary malignancies: a glioblastoma, followed 6 months later by an abdominal B cell non-Hodgkin's lymphoma. 7968792 Human
nf1 juvenile chronic myelogenous leukaemia (jcml) For example, activating point mutations in RAS genes are found in some patients with juvenile chronic myelogenous leukaemia (JCML), while other patients with JCML show loss of the neurofibromatosis type 1 (NF1) gene, a Ras GTPase activating protein. 8563750 Human
nf1 brainstem tumors We describe a series of NF1 brainstem tumors as being pilocytic astrocytomas, much less aggressive than non-NF1 brainstem tumors but more symptomatic than brainstem UBOs ('unidentified bright objects') in NF1. 8755348 Human
nf1 cerebral tumor [Cerebral tumors in children with neurofibromatosis type 1] Twenty-eight children (mean age 8 years) with neurofibromatosis type 1 (NF1) and cerebral tumor were studied from 1975 to 1992 (mean follow-up 8.1 years) considering the biological behaviour of t 8766674 Human
nf1 cerebral tumors [Cerebral tumors in children with neurofibromatosis type 1] Twenty-eight children (mean age 8 years) with neurofibromatosis type 1 (NF1) and cerebral tumor were studied from 1975 to 1992 (mean follow-up 8.1 years) considering the biological behaviour of t 8766674 Human
nf1 cerebral tumors Considering the risk of cerebral tumors in patients with NF1, we conclude that cerebral magnetic resonance should be performed also in the asymptomatic ones. 8766674 Human
nf1 cerebral tumors Cerebral tumors different from NCO gliomas seem to have a similar natural history in patients with or without NF1 and therefore the management should be the same for both groups. 8766674 Human
nf1 dcis The centromeric region and the NF1 locus, which is located between the centromere and c-erbB-2, were not amplified in any of the DCIS and invasive breast carcinomas, but co-amplification of the myeloperoxidase gene was detected in 3/5 DCIS and 1/5 invasiv 9174626 Human
nf1 invasive breast carcinomas The centromeric region and the NF1 locus, which is located between the centromere and c-erbB-2, were not amplified in any of the DCIS and invasive breast carcinomas, but co-amplification of the myeloperoxidase gene was detected in 3/5 DCIS and 1/5 invasiv 9174626 Human
nf1 invasive carcinomas The centromeric region and the NF1 locus, which is located between the centromere and c-erbB-2, were not amplified in any of the DCIS and invasive breast carcinomas, but co-amplification of the myeloperoxidase gene was detected in 3/5 DCIS and 1/5 invasiv 9174626 Human
nf1 familial cancer [Evaluation of cancer risk through genetic analysis?] BACKGROUND: The recent literature of familial cancer, specifically related to germline mutations of RB1, p53, NF1, ATM, BRCA1, Mismatch repair genes and APC is reviewed. 9340835 Human
nf1 soft tissue tumors However, the incidence of cervical soft tissue tumors and the value of screening MR for children with NF1 are not known. 10382213 Human
nf1 soft tissue sarcoma Molecular analysis was performed by reverse transcription (RT) polymerase chain reaction (PCR) on tumor RNA to seek the chimerical transcript of the most common soft tissue sarcoma translocations and analyze neurofibromatosis 1 (NF1) gene expression. 10524458 Human
nf1 colorectal cancer [HNPCC syndrome, microsatellite instability and NF1 gene alteration] Hereditary predisposition to non polyposis colorectal cancer is caused by a heterozygous germline mutation in a DNA mismatch repair gene (essentially hMLH1 or hMSH2). 10572231 Human
nf1 hnpcc [HNPCC syndrome, microsatellite instability and NF1 gene alteration] Hereditary predisposition to non polyposis colorectal cancer is caused by a heterozygous germline mutation in a DNA mismatch repair gene (essentially hMLH1 or hMSH2). 10572231 Human
nf1 polyposis [HNPCC syndrome, microsatellite instability and NF1 gene alteration] Hereditary predisposition to non polyposis colorectal cancer is caused by a heterozygous germline mutation in a DNA mismatch repair gene (essentially hMLH1 or hMSH2). 10572231 Human
nf1 soft tissue sarcomas One hundred percent of mice harboring null Nf1 and p53 alleles in cis synergize to develop soft tissue sarcomas between 3 and 7 months of age. 10591653 Mouse
nf1 soft tissue sarcoma Editing and hyperediting of apo B, NAT1 or NF1 mRNA was not identified in any of 28 resected tumor specimens, including hepatocellular, bile duct, gastric, colorectal, pancreatic adeno- and neuroendocrine, lung adeno-, medullary thyroid and breast carcino 10597235 Human
nf1 gliomas of the visual pathway [Long-term outcome of gliomas of the visual pathway in type 1 neurofibromatosis] BACKGROUND: Optic gliomas are frequently associated with neurofibromatosis type 1 (NF1) and belong to the diagnostic criteria of NF1. 10637799 Human
nf1 medullary thyroid carcinoma (mtc) BACKGROUND: Subjects with neurofibromatosis type 1 (NF1) show an increased risk of endocrine tumors, especially pheochromocytoma, whereas thyroid C-cell hyperplasia (CCH) and medullary thyroid carcinoma (MTC) are very rare events described only in adult p 11815730 Human
nf1 hemangiopericytomas NF1 deletions, often in the form of monosomy 17, were found in MPNSTs (76%). neurofibromas (31%), hemangiopericytomas (17%), and fibrosarcomas (17%), but not in synovial sarcomas or cellular schwannomas. 12152785 Human
nf1 synovial sarcomas NF1 deletions, often in the form of monosomy 17, were found in MPNSTs (76%). neurofibromas (31%), hemangiopericytomas (17%), and fibrosarcomas (17%), but not in synovial sarcomas or cellular schwannomas. 12152785 Human
nf1 ovarian cancer CONCLUSION: The concurrence of NF1 and hereditary breast/ovarian cancer in this family is likely due to the presence of two linked mutations at the NF1 and BRCA1 loci. 12217765 Human
nf1 mediastinal neurofibroma Seventeen months before, when the patient underwent surgery at the same Department for both a left-sided paravertebral inferior mediastinal neurofibroma and a right-sided axillary neurofibroma, diagnosis of von Recklinghausen disease (NF1) was made, accor 12903608 Human
nf1 juvenile xanthogranuloma (jxg) The clinical features and natural history of juvenile xanthogranuloma (JXG) in 14 children affected by neurofibromatosis 1 (NF1) are reported. 15078345 Human
nf1 hereditary nonpolyposis colorectal cancer (hnpcc) Heterozygous germ-line mutations in DNA mismatch repair (MMR) genes predispose individuals to hereditary nonpolyposis colorectal cancer (HNPCC), whereas with homozygous MMR gene mutations children are diagnosed at an early age with de novo neurofibromatos 15139004 Human
nf1 hnpcc Here, we describe a mutation, MLH1 P648S, which was found in a typical HNPCC family, with one homozygous child displaying mild features of NF1 and no hematological cancers. 15139004 Human
nf1 brachial plexus tumors One hundred forty-one benign lesions were brachial plexus tumors: 54 schwannomas (38%) and 87 neurofibromas (62%), of which 55 (63%) were solitary neurofibromas and 32 (37%) were neurofibromatosis Type 1 (NF1)-associated neurofibromas. 15739552 Human
nf1 colon cancer CONCLUSIONS: Our findings suggest that the NF1 gene may play a role in the development and progression of colon cancer and the NF1 gene may be a potential tumour marker and a new potential target for colon cancer therapy. 15840687 Human
nf1 multiple endocrine neoplasia type ii Up to date, four diagnosis of familal disease (multiple endocrine neoplasia type II, von Hippel Lindau disease, neurofibromatosis type 1 and hereditary paraganglioma) should be discussed and causative mutations in six different phaechomocytoma susceptibil 16001332 Human
nf1 malignant neoplasms Therapy-induced malignant neoplasms in Nf1 mutant mice. 16226708 Mouse
nf1 vestibular schwannoma METHODS: In 54 unrelated patients without clinical NF1 or NF2, 36 patients had sporadic vestibular schwannoma, and 18 dorsal spinal root schwannoma. 16232328 Human
nf1 intracranial tumors The development of intracranial tumors in adults with NF1 is uncommon and to our knowledge, siblings with adult onset gliomas have not been previously reported. 16725158 Human
nf1 endocrine tumors It is well known that patients with von Recklinghausen syndrome (NF-1) (OMIM 162200) carrying NF1 germline mutations are predisposed to endocrine tumors including pheochromocytomas and duodenal somatostatinomas. 16861979 Human
nf1 pancreatic endocrine carcinoma To determine the potential association between the NF-1 syndrome and pancreatic endocrine tumors, we analyzed a NF-1 patient with a well-differentiated pancreatic endocrine carcinoma for NF1 mutation, allelic loss of the NF1 gene and its expression in per 16861979 Human
nf1 pancreatic endocrine tumors To determine the potential association between the NF-1 syndrome and pancreatic endocrine tumors, we analyzed a NF-1 patient with a well-differentiated pancreatic endocrine carcinoma for NF1 mutation, allelic loss of the NF1 gene and its expression in per 16861979 Human
nf1 insulinoma These results show that the wild-type NF1 transcrips and protein are reduced, in the reported insulinoma, supposedly by epigenetic mechanisms. 16861979 Human
nf1 insulinomas Furthermore, the NF1 gene must be considered as a candidate tumor suppressor gene for sporadic insulinomas and probably other pancreatic endocrine tumors. 16861979 Human
nf1 pancreatic endocrine tumors Furthermore, the NF1 gene must be considered as a candidate tumor suppressor gene for sporadic insulinomas and probably other pancreatic endocrine tumors. 16861979 Human
nf-1 melanocytic nevi [Von Recklinghausen neurofibromatosis and dermal melanocytic nevi] Neurofibromas, café au lait macules and freckles in the axillary or inguinal regions are common manifestations of von Recklinghausen's neurofibromatosis (NF-1). 7790193 Human
nf-1 melanocytic nevi Such pathologic rearrangement in the embryogenesis of the cellular elements could be important for the pathogenesis of NF-1 and dermal melanocytic nevi. 7790193 Human
nf-1 nhl We carried out the first detailed population-based study of leukaemia and non-Hodgkin lymphoma (NHL) associated with NF-1 in order to estimate the risk and elucidate the relationship between these conditions. 7947106 Human
nf-1 chronic myelomonocytic leukaemia (cmml) Over the 17 year study period there were five cases of chronic myelomonocytic leukaemia (CMML) in patients with NF-1 (relative risk 221; 95% CI 71-514), 12 cases of acute lymphoblastic leukaemia (ALL) (relative risk 5.4; 95% CI 2.8-9.4) and five cases of 7947106 Human
nf-1 nhl Over the 17 year study period there were five cases of chronic myelomonocytic leukaemia (CMML) in patients with NF-1 (relative risk 221; 95% CI 71-514), 12 cases of acute lymphoblastic leukaemia (ALL) (relative risk 5.4; 95% CI 2.8-9.4) and five cases of 7947106 Human
nf-1 intracranial tumour In 12 children complications of NF-1 were noted before diagnosis of their underlying condition, and half of the children had a serious complication, including intracranial tumour, optic glioma, scoliosis, pseudarthrosis tibiae, or mental handicap. 8066837 Human
nf-1 skin tumors NF-1 is Von Recklinghasusen's neurofibromatosis and comprises characteristic skin lesions (cafe au lait spots, intertriginous freckles, neurofibromatous skin tumors) and other congenital and hamartomatous bone, endocrine glands and central nervous sy 11320736 Human
nf-1 soft tissue tumors MPNST accounts for about 5-10% of all soft tissue tumors and is often associated with neurofibromatosis type I (NF-1, von Recklinghausen's disease). 11769579 Human
nf-1 pheochromocytoma The classical pheochromocytoma genes Ret, Vhl, and Nf-1 remained intact, a finding consistent with the intersection of these genes with pathways engaged by Pten and Ink4a/Arf. 11818530 Mouse
nf-1 soft tissue sarcoma Neurofibromatosis type I (NF-1) is a genetic syndrome associated with soft tissue sarcoma and higher risk of developing neoplasia. 15688204 Human
nf-1 insulinoma Pancreatic endocrine tumors are a rare manifestation of the neurofibromatosis type 1 phenotype: molecular analysis of a malignant insulinoma in a NF-1 patient. 16861979 Human
nf-1 pancreatic endocrine tumors Pancreatic endocrine tumors are a rare manifestation of the neurofibromatosis type 1 phenotype: molecular analysis of a malignant insulinoma in a NF-1 patient. 16861979 Human
nf-1 endocrine tumors It is well known that patients with von Recklinghausen syndrome (NF-1) (OMIM 162200) carrying NF1 germline mutations are predisposed to endocrine tumors including pheochromocytomas and duodenal somatostatinomas. 16861979 Human
nf-1 insulinomas It is unclear, however, whether the rarely reported occurrence of pancreatic insulinomas in NF-1 patients represents a coincidental finding or whether insulinomas are a rare manifestation of the NF-1 syndrome. 16861979 Human
nf-1 pancreatic endocrine carcinoma To determine the potential association between the NF-1 syndrome and pancreatic endocrine tumors, we analyzed a NF-1 patient with a well-differentiated pancreatic endocrine carcinoma for NF1 mutation, allelic loss of the NF1 gene and its expression in per 16861979 Human
nf-1 pancreatic endocrine tumors To determine the potential association between the NF-1 syndrome and pancreatic endocrine tumors, we analyzed a NF-1 patient with a well-differentiated pancreatic endocrine carcinoma for NF1 mutation, allelic loss of the NF1 gene and its expression in per 16861979 Human
nf-1 insulinomas In this line, insulinomas may be viewed as a rare manifestation of the NF-1 syndrome. 16861979 Human
nf1 optic pathway tumours CONCLUSIONS: Because optic pathway tumours arise in children younger than 6 years of age, all NF1 children should undergo yearly ophtalmologic examination and growth assessment to monitor signs of precocious puberty. 17301720 Human
neurofibromin cancer-predisposing syndrome Case report. Neurofibromatosis type 1 (NF1) is the most common familial cancer-predisposing syndrome in humans, for which the gene (NF1) and its gene product (neurofibromin) have been identified. 8622163 Human
neurofibromin mouse pheochromocytoma (mpc) Nf1 encodes a ras-GTPase-activating protein, neurofibromin, and mouse pheochromocytoma (MPC) cells in primary cultures typically show extensive spontaneous neuronal differentiation that may result from the loss of the remaining wild-type allele and defect 11151443 Mouse
nf1 cancer-predisposing syndrome Case report. Neurofibromatosis type 1 (NF1) is the most common familial cancer-predisposing syndrome in humans, for which the gene (NF1) and its gene product (neurofibromin) have been identified. 8622163 Human
nf1 recurrent anaplastic astrocytoma RESULTS. One recurrent anaplastic astrocytoma showed LOH within NF1 but not with a flanking marker located near the gene. 8625164 Human
nf1 malignant peripheral nerve tumours Whether this pathogenic mechanism is applicable to benign and malignant peripheral nerve tumours from NF1 and non NF1 patients is not known, due to lack of a tissue based assay. 8637706 Human
nf1 ossifying fibroma In this report a case of symptomatic frontoparietotemporal ossifying fibroma with intracranial growth and cerebral displacement in a 12-year-old boy with neurofibromatosis type 1 (NF1) is described. 8893736 Human
nf1 ossifying fibromas To the authors' knowledge, ossifying fibromas of calvarial bones have not been described in NF1. 8893736 Human
nf1 optic pathway glioma Optic pathway gliomas in children with neurofibromatosis 1: consensus statement from the NF1 Optic Pathway Glioma Task Force. 9029062 Human
nf1 second malignant neoplasm (smn) The authors report monosomy 7 myelodysplastic syndrome (MDS) as a second malignant neoplasm (SMN) in five children with sporadic NF1, the results of molecular analysis for NF1 and ras alterations in their bone marrow, and summarize their experience with S 9083167 Human
nf1 optic pathway glioma (opg) In this study we found optic pathway glioma (OPG) in 10%, macrocephaly in 36%, hydrocephalus in 5%, retardation in 14%, brain tumours in 5%, kyphoscoliosis in 13%. renal artery stenosis in 0.5% and neurofibrosarcoma in 0.5% of NF1 patients. 9127578 Human
nf1 borderline ovarian tumor We measured relative expression of NF1 Type II and Type I isoforms in cultured normal and malignant human ovarian surface epithelial cells(HOSE) and in invasive and borderline ovarian tumor tissue. 9926941 Human
nf1 abdominal tumor [A young woman with neurofibromatosis 1 (Recklinghausen disease), abdominal tumor and hypertension] HISTORY AND ADMISSION FINDINGS: A 38-year-old woman, known to have type 1 neurofibromatosis (NF1; von Recklinghausen's disease) and recurrence of a ma 11129996 Human
nf1 mouse pheochromocytoma (mpc) Nf1 encodes a ras-GTPase-activating protein, neurofibromin, and mouse pheochromocytoma (MPC) cells in primary cultures typically show extensive spontaneous neuronal differentiation that may result from the loss of the remaining wild-type allele and defect 11151443 Mouse
nf1 optic pathway tumours CONCLUSIONS: In this study we showed an high correlation between optic pathway tumours and ophthalmologic abnormalities confirming the usefulness of an integrated clinical-neuroradiological approach in patients affected by NF1. 11438792 Human
nf1 primary pulmonary sarcoma We report here a case of primary pulmonary sarcoma complicated with neurofibromatosis type 1 (NF1). 12680156 Human
nf1 primary pulmonary sarcoma We concluded that this was a complicated case of primary pulmonary sarcoma with NF1. 12680156 Human
nf1 giant cell granuloma Neurofibromatosis 1: a novel NF1 mutation in an 11-year-old girl with a giant cell granuloma. 12822827 Human
nf1 common cancer Neurofibromatosis type 1 (NF1) is a common cancer predisposition syndrome affecting the nervous system. 14513407 Human
nf1 optic pathway tumors (opt) Optic pathway tumors (OPT) occur in about 15% of individuals with Neurofibromatosis Type 1 (NF1) and may effect substantial visual loss. 15150770 Human
nf1 infantile myofibromatosis We present a boy fulfilling the diagnostic criteria for NF1 with two unusual lesions: infantile myofibromatosis and a verrucous epidermal nevus. 15459537 Human
nf1 optic pathways glioma (opg) An additional child had an isolated optic pathways glioma (OPG), which behaved both biologically and radiographically as an NF1 associated OPG. 15489488 Human
nf1 mouse pheochromocytoma (mpc) Glial cell line-derived neurotrophic factor (GDNF) can induce neuron-like differentiation of mouse pheochromocytoma (MPC) cell lines derived from mice with a heterozygous knockout mutation of nf1, the murine counterpart of the human gene mutated in neurof 15572029 Human
nf1 optic pathway glioma Children affected with the inherited tumor predisposition syndrome, neurofibromatosis 1 (NF1), are prone to the development of low-grade astrocytic optic pathway tumors (optic pathway glioma [OPG]). 15622533 Human
nf1 optic pathway tumors Children affected with the inherited tumor predisposition syndrome, neurofibromatosis 1 (NF1), are prone to the development of low-grade astrocytic optic pathway tumors (optic pathway glioma [OPG]). 15622533 Human
nf-1 malignant peripheral neuroectodermal tumor A case of multifocal malignant peripheral neuroectodermal tumor (PNET) arising from a plexiform neurofibroma in a 4-month-old Chinese boy with neurofibromatosis type 1 (NF-1) is described. 8544806 Human
nf-1 small intestinal stromal tumors (sist) A case of multiple small intestinal stromal tumors (SIST) with skeinoid fibers of the jejunum arising in a 50 year old male with neurofibromatosis 1 (NF-1) is reported. 8905879 Human
nf1 epithelial neoplasms The dysregulation in cellular proliferation and signaling induced by decreased NF1 along with the PTCH gene mutation may explain the pattern of immunohistochemical staining within these tumors, and the rare association of NF1 with epithelial neoplasms. 16207184 Human
nf1 inherited cancer syndromes They arise sporadically or occur secondary to inherited cancer syndromes, such as multiple endocrine neoplasia type II (MEN2), von Hippel-Lindau disease (VHL), or neurofibromatosis type I (NF1). 16215979 Human
nf1 multiple endocrine neoplasia type ii They arise sporadically or occur secondary to inherited cancer syndromes, such as multiple endocrine neoplasia type II (MEN2), von Hippel-Lindau disease (VHL), or neurofibromatosis type I (NF1). 16215979 Human
nf1 cns tumors We report on a nonconsanguineous family in which two siblings with cutaneous manifestations leading to a diagnosis of neurofibromatosis type 1 (NF1) developed CNS tumors at an early age. 16283678 Human
nf1 cns tumors Most recently, about a dozen other cases of inherited bi-allelic deficiency of mismatch repair (MMR) genes associated with early onset CNS tumors, hematologic malignancy, gastrointestinal neoplasia, café-au-lait spots, and other NF1 features have been re 16283678 Human
nf1 hematologic malignancy Most recently, about a dozen other cases of inherited bi-allelic deficiency of mismatch repair (MMR) genes associated with early onset CNS tumors, hematologic malignancy, gastrointestinal neoplasia, café-au-lait spots, and other NF1 features have been re 16283678 Human
nf1 fibromas HPTH has been associated with a number of familial diseases, such as multiple endocrine neoplasia-type 1 (MEN1), multiple endocrine neoplasia-type2A (MEN2A), neurofibromatosis type1 (NF1) and HPTH with multiple ossifying jaw fibromas (HPT-JT Syndrome). 16299679 Human
nf1 common tumor Neurofibromatosis type 1 (NF1) is a common tumor predisposition syndrome affecting approximately 1 in 4,000 persons. 16323217 Human
nf1 mesenchymal tumors Gastrointestinal stromal tumors (GISTs), the specific KIT- or PDFGRA-signaling driven mesenchymal tumors, most commonly occur sporadically, but there seems to be some increased tendency for these tumors to develop in patients with neurofibromatosis 1 (NF1 16330947 Human
nf1 malignant pheochromocytomas Multiple and coexistent genetic abnormalities characterized malignant pheochromocytomas (P < 0.001), whereas locally invasive pheochromocytomas showed a significantly higher incidence of NF1 alterations (P < 0.001). 16394087 Human
nf1 common tumour Neurofibromatosis type 1 (NF1) is a common tumour predisposition syndrome associated with numerous clinical complications. 16397625 Human
nf1 skin tumor Twelve NF1 skin tumor samples from six patients were obtained during the operations. 16408192 Human
nf1 soft tissue sarcoma Rhabdomyosarcoma (RMS) is an uncommon malignant soft tissue sarcoma and is also a rare tumor type in NF1 patients. 16434322 Human
nf1 adrenal tumor Case 1: A 29-year-old man with previously undiagnosed NF1, was admitted to our hospital for hypertension and a right adrenal tumor. 16440725 Human
nf1 plasma cell dyscrasia We will discuss the probable pathogenesis of plasma cell dyscrasia in NF1 patients, as well as the likely antimyeloma activity of biphoshonates. 16522549 Human
nf1 soft tissue neoplasm Malignant peripheral nerve sheath tumor (MPNST) is an uncommon soft tissue neoplasm with a poor prognosis, occurring sporadically or associated with neurofibromatosis type 1 (NF1); however, the histogenesis of MPNST remains unclear, especially in sporadic 16527603 Human
nf1 osteosarcoma We report an unusual case of a 29-year-old NF1 female suffering from malignant peripheral nerve sheath tumor (MPNST) that eventually developed osteosarcoma in the proximal femur. 16565597 Human
nf1 osteosarcoma The correlation between the histogenesis of osteosarcoma and the genetic abnormality in NF1 patients has not been elucidated, but the finding of osteosarcomatous transformation in this case suggests the divergent cellular differentiation to mesenchymal ma 16565597 Human
nf1 adrenal pheochromocytoma We believe this is the first report of composite adrenal pheochromocytoma and multiple GISTs occurring in an 82 year old woman with neurofibromatosis type 1 (NF1), manifested by clitoral and subcutaneous neurofibromas, epilepsy and Lisch nodules. 16640782 Human
nf1 tenosynovial giant cell tumor A case of diffuse-type tenosynovial giant cell tumor arising in the left upper extremity is reported in a 23-year-old man with neurofibromatosis type 1 (NF1)-Noonan syndrome. 16723851 Human
nf1 soft tissue neoplasm This uncommon type of soft tissue neoplasm occurring in this unique clinical setting served to open an inquiry into the subject of non-neurogenic tumors in association with NF1 and Noonan syndrome, both manifested in our patient. 16723851 Human
nf1 fibrohistiocytic tumor Nonossifying fibroma of bone as a presumptive fibrohistiocytic tumor is an uncommon but well-documented manifestation in NF1, whereas in Noonan-like syndrome, both giant cell granuloma and pigmented villonodular synovitis are recognized as associated lesi 16723851 Human
nf1 tenosynovial giant cell tumor Nonossifying fibroma of bone as a presumptive fibrohistiocytic tumor is an uncommon but well-documented manifestation in NF1, whereas in Noonan-like syndrome, both giant cell granuloma and pigmented villonodular synovitis are recognized as associated lesi 16723851 Human
nf1 paraganglioma A question confronting clinicians is whether they should screen patients with apparently sporadic pheochromocytomas for unsuspected germline mutations of some or all of the seven genes known to cause hereditary paraganglioma or pheochromocytoma (NF1, VHL, 16735498 Human
nf1 common tumors Neurofibromas are common tumors found in neurofibromatosis type 1 (NF1) patients. 16835260 Human
nf1 common tumors We have constructed a variety of mouse models for NF1 that permit recapitulation of the most common tumors seen in patients. 16869751 Mouse
nf-1 adrenal cortical carcinoma Pediatric Adrenal Cortical Carcinoma: Brain Metastases and Relationship to NF-1, Case Reports and Review of the Literature. 16132517 Human
nf-1 brain metastases Pediatric Adrenal Cortical Carcinoma: Brain Metastases and Relationship to NF-1, Case Reports and Review of the Literature. 16132517 Human
nf-1 metastatic disease Although ACC is known to be a signature tumor type in several inherited cancer predisposition syndromes, particularly Li Fraumeni, ACC has not been previously associated with neurofibromatosis, type 1 (NF-1), an inherited disorder with frequent CNS lesion 16132517 Human
nf-1 brain metastases We review the literature on ACCs in pediatric patients regarding brain metastases and previous associations with NF-1. 16132517 Human
nf-1 melanocytic schwannomas A full autopsy showed diffuse neurofibromas and café au lait macules consistent with NF-1 and malignant melanocytic schwannomas with multiple metastases. 16244794 Human
nf-1 aneurysmal bone cyst Assessment of sacrum scalloping in NF-1 caused by aneurysmal bone cyst is described. 16427426 Human
nf-1 benign neurilemmomas The most common intrinsic neoplasms involving the brachial plexus are benign neurilemmomas and neurofibromas that are usually associated with neurofibromatosis-1 (NF-1). 16538633 Human
nf1 tumor syndrome Neurofibroma is a benign tumor originating from Schwann cells in peripheral nerve sheaths and may occur as a sporadic tumor or as part of the dominantly inherited tumor syndrome NF1. 15986446 Human
nf1 smoldering multiple myeloma (smm) We present a case of a 64-year-old woman with neurofibromatosis (NF1) and smoldering multiple myeloma (SMM). 16522549 Human
nf1 giant cell granuloma Nonossifying fibroma of bone as a presumptive fibrohistiocytic tumor is an uncommon but well-documented manifestation in NF1, whereas in Noonan-like syndrome, both giant cell granuloma and pigmented villonodular synovitis are recognized as associated lesi 16723851 Human
nf1 nonossifying fibroma Nonossifying fibroma of bone as a presumptive fibrohistiocytic tumor is an uncommon but well-documented manifestation in NF1, whereas in Noonan-like syndrome, both giant cell granuloma and pigmented villonodular synovitis are recognized as associated lesi 16723851 Human
nf1 tumor syndrome Neurofibromatosis type I (NF1) is an autosomal dominant familial tumor syndrome characterized by the presence of multiple benign neurofibromas. 16830335 Human
nf1 tumor syndrome We conclude that NF1 is a familial tumor syndrome in which the type of germline mutation influences the type of second hit in the tumors. 16830335 Human
nf-1 cancer predisposition syndromes Although ACC is known to be a signature tumor type in several inherited cancer predisposition syndromes, particularly Li Fraumeni, ACC has not been previously associated with neurofibromatosis, type 1 (NF-1), an inherited disorder with frequent CNS lesion 16132517 Human
nf-1 systemic metastases Soon after our experience with this patient, a girl with known NF-1 presented with virilization; adrenalectomy disclosed an ACC and systemic metastases were found within months. 16132517 Human
neurofibromin adrenal cortical tumor Since neurofibromin is expressed in the adrenal gland, six pheochromocytomas and one adrenal cortical tumor were examined for neurofibromin expression. 7519874 Human
neurofibromin adrenal gland neoplasms The frequent LOH surrounding the NF1 locus and lack of neurofibromin expression in these tumors suggest that NF1 gene mutations may contribute to the development of adrenal gland neoplasms in patients with NF1. 7519874 Human
neurofibromin neuroblastoma Our analysis of other neural crest-derived tumor cell lines has shown that some melanoma and neuroblastoma cell lines established from tumors occurring in patients without neurofibromatosis contain reduced or undetectable levels of neurofibromin, with con 8516298 Human
neurofibromin neural crest tumor Our analysis of other neural crest-derived tumor cell lines has shown that some melanoma and neuroblastoma cell lines established from tumors occurring in patients without neurofibromatosis contain reduced or undetectable levels of neurofibromin, with con 8516298 Human
neurofibromin neuroblastoma In contrast to the schwannoma cell lines, GTP-Ras was appropriately regulated in the melanoma and neuroblastoma lines that were deficient in neurofibromin, even when c-H-ras was overexpressed in the lines. 8516298 Human
neurofibromin schwann cell hyperplasia Expression of Kit in neurofibromin-deficient human Schwann cells: role in Schwann cell hyperplasia associated with type 1 neurofibromatosis. 9715282 Human
nf1 lymphomas Frequent disruption of the Nf1 gene by a novel murine AIDS virus-related provirus in BXH-2 murine myeloid lymphomas. 7474134 Mouse
nf1 lymphomas Evi-2, a common site of viral integration in BXH-2 myeloid lymphomas, is located within a large intron of the Nf1 tumor suppressor gene. 7474134 Human
nf1 adrenal gland neoplasms The frequent LOH surrounding the NF1 locus and lack of neurofibromin expression in these tumors suggest that NF1 gene mutations may contribute to the development of adrenal gland neoplasms in patients with NF1. 7519874 Human
nf1 medulloblastoma In contrast to other embryonal neuronal tumors, this NF1-GRD splicing pattern could not be modified in a newly established medulloblastoma cell line by retinoic acid treatment. 7657385 Human
nf1 carcinogenesis Malignant peripheral nerve sheath tumors (MPNST) are known to develop in patients with neurofibromatosis 1 (NF1), thus providing an excellent model for the study of multistep carcinogenesis in genetically predisposed individuals. 7828144 Human
nf1 carcinogenesis In addition, we have assayed two other tumour-suppressor genes, WT1 and NF1, to see whether they play a role in colorectal carcinogenesis. 7947085 Human
nf1 juvenile chronic myelomonocytic leukemia (jcml) It is seen in combination with juvenile chronic myelo-monocytic leukemia (JCML) and/or neurofibromatosis type 1 (NF1). 8177146 Human
nf1 chronic myelogenous leukemia (cml) We investigated mutations in the GTPase activating protein-related domain of the neurofibromatosis type 1 gene (NF1-GRD) and its expression in each phase of chronic myelogenous leukemia (CML). 8207976 Human
nf1 cml Samples from 45 cases in chronic phase (CP), 41 in acute phase, and four CML cell lines were examined for mutations in the NF1-GRD by single-strand conformation polymorphism (SSCP) analysis and allele specific restriction analysis (ASRA). 8207976 Human
nf1 cml In 23 samples from CML cases and four CML cell lines, expression of two types of the NF1-GRD transcripts, type I and type II, were examined by NF1-GRD-specific polymerase chain reaction-based densitometric analysis and by the quantitative assay with coamp 8207976 Human
nf1 cml However, this difference in type II expression between CP and acute phase was so small that changes of NF1-GRD transcripts as well as NF1-GRD or N-ras mutations might not be responsible for the progression of CML. 8207976 Human
nf1 leukemogenesis We used a series of polymorphic markers within and near NF1 to determine whether leukemogenesis was associated with structural alterations of the gene. 8302341 Human
nf1 carcinogenesis The NF1 gene seems to increase the risk not only for neural tumors but also for some non-neural tumors in an age-specific, organ-dependent pattern of carcinogenesis. 8402499 Human
nf1 neuroblastoma Inactivation of the NF1 gene in human melanoma and neuroblastoma cell lines without impaired regulation of GTP.Ras. 8516298 Human
nf1 neuroblastoma Our analysis of other neural crest-derived tumor cell lines has shown that some melanoma and neuroblastoma cell lines established from tumors occurring in patients without neurofibromatosis contain reduced or undetectable levels of neurofibromin, with con 8516298 Human
nf1 neural crest tumor Our analysis of other neural crest-derived tumor cell lines has shown that some melanoma and neuroblastoma cell lines established from tumors occurring in patients without neurofibromatosis contain reduced or undetectable levels of neurofibromin, with con 8516298 Human
nf1 solid tumors BACKGROUND: Children with neurofibromatosis type 1 (NF1) are at increased risk of developing benign and malignant solid tumors as well as hematologic malignancies, including de novo juvenile chronic myelogenous leukemia, monosomy 7 syndrome, and acute mye 9083167 Human
nf1 primary tumors All primary tumors were histologically diagnosed as pilocytic astrocytoma (WHO grade I), except for one anaplastic pilocytic astrocytoma (WHO grade III) which developed in an NF1 patient and recurred as glioblastoma multiforme (WHO grade IV). p53 mutation 9626343 Human
nf1 common tumour NF1 is also noted for the higher risk of associated malignancies, making it the most common tumour-predisposing disease in humans. 9706718 Human
nf1 lymphomas The observed cooperation in in vivo lymphomagenesis between N-ras overexpression and NF1 inactivation emphasizes the importance of searching for additional functions for the NF1 protein and of intensifying the screening for NF1 mutations in human lymphoma 9796699 Human
nf1 malignant brain tumors Here we examined the differential expression of type I and type II transcripts of NF1-GRD in clinical samples of supratentorial malignant brain tumors by the RNA-polymerase chain reaction (PCR) method using frozen tissue sections. 1388685 Human
nf1 neural crest tumor Interestingly, the SK-N-SH human neuroblastoma line expresses no detectable NF1 mRNA, indicating that expression of NF1 is not essential for viability of this neural crest-derived tumor cell line. 1457041 Human
nf-1 neural tumors In another section, the focus is on NF-1 neural-crest tumors, with particular emphasis on the four types of neurofibromas (cutaneous, subcutaneous, nodular plexiform and diffuse plexiform), schwannomas, astrocytomas and neurofibrosarcomas. 2518510 Human
nf-1 malignant neural tumors Loss of constitutional heterozygosity has not been reported in the benign tumors associated with NF-1, however, and has only been detected in a few malignant neural-crest tumors and in some tumor-derived cell lines. 8302341 Human
nf-1 optic pathway glioma We present a 2(1/2)-year-old boy with NF-1 who demonstrated coexisting optic pathway glioma with involvement of the chiasm and optic nerve, orbital alveolar rhabdomyosarcoma and bilateral optic nerve sheath dural ectasia. 16941184 Human
nf 1 pituitary adenomas Associations between pituitary adenomas and NF 1 are very rare and have been reported in only four cases, including the present case. 12134671 Human
neurofibromin tumor antigen Tumor antigen HuR binds specifically to one of five protein-binding segments in the 3'-untranslated region of the neurofibromin messenger RNA. 3'-untranslated regions of various mRNAs have been shown to contain sequence motifs which control mRNA 10673359 Human
neurofibromin peripheral nerve sheath tumors Schwann cells derived from peripheral nerve sheath tumors from individuals with Neurofibromatosis Type 1 (NF1) are deficient for the protein neurofibromin, which contains a GAP-related domain (NF1-GRD). 16908010 Human
nf1 carcinogenesis Urinary bladder transitional cell carcinogenesis is associated with down-regulation of NF1 tumor suppressor gene in vivo and in vitro. 10079253 Human
nf1 tcc This is the first study reporting alterations in NF1 gene expression in TCC. 10079253 Human
nf1 tcc We examined NF1 gene expression in a total of 29 surgical urinary bladder TCC specimens representing grades 1 to 3 and in three cell lines, RT4, 5637, and T24 (representing grades 1 to 3, respectively). 10079253 Human
nf1 tcc Decreased NF1 gene expression was observed in 23 of 29 (83%) TCC specimens as estimated by immunohistochemistry, the decrease being more pronounced in high-grade tumors. 10079253 Human
nf1 tcc NF1 mRNA levels were markedly lower in TCC tissue compared with adjacent non-neoplastic urothelium, as studied by in situ hybridization for grade 3 TCC. 10079253 Human
nf1 tcc Immunohistochemistry and Western blotting demonstrated that TCC cell lines expressed NF1 protein at different levels, expression being almost undetectable in T24 (grade 3) cells. 10079253 Human
nf1 tcc Northern blotting for cell lines demonstrated reduced NF1 mRNA levels in grade 3 TCC cells. 10079253 Human
nf1 carcinogenesis Our results show that both NF1 mRNA and protein levels are decreased in high-grade TCC, suggesting that alterations of NF1 gene expression may be involved in bladder TCC carcinogenesis. 10079253 Human
nf1 tcc Our results show that both NF1 mRNA and protein levels are decreased in high-grade TCC, suggesting that alterations of NF1 gene expression may be involved in bladder TCC carcinogenesis. 10079253 Human
nf1 leukemias Previous studies showed that a frequent common integration site in BXH2 leukemias is the Nf1 tumor suppressor gene. 10321731 Human
nf1 malignant transformation Mutations that activate the protooncogene ras, such as loss of Nf1, cooperate with inactivating mutations at the p53 tumor suppressor gene during malignant transformation. 10591653 Human
nf1 carcinogenesis There is increasing evidence implicating the human NF1 gene in epithelial carcinogenesis. 10844550 Human
nf1 carcinogenesis The data support a plausible role for NF1 mutation in human epithelial carcinogenesis. 10844550 Human
nf1 low-grade tumors OBJECTIVE/METHODS: To understand the potential role of cooperating genetic events in the development of these low-grade tumors, the authors used immunohistochemistry and selected confirmatory Western blots to examine nine symptomatic NF1-associated pilocy 11294925 Human
nf1 tcc Lower proliferation and down-regulation of apoptosis define kinetically the deep compartment of muscle-invasive TCC of the bladder and correlate with the topographic heterogeneity, NF1-defective in superficial compartments and TP53-defective in deep compa 12109862 Human
nf1 hemangiopericytomas To determine whether specific genetic changes differentiate between MPNST and morphologically similar neoplasms, we assessed these chromosomal regions in 22 MPNSTs (9 NF1-associated, 13 sporadic), 13 plexiform neurofibromas, 5 cellular schwannomas, 8 syno 12152785 Human
nf1 synovial sarcomas To determine whether specific genetic changes differentiate between MPNST and morphologically similar neoplasms, we assessed these chromosomal regions in 22 MPNSTs (9 NF1-associated, 13 sporadic), 13 plexiform neurofibromas, 5 cellular schwannomas, 8 syno 12152785 Human
nf1 carotid body tumor Tumorigenesis of NF1-associated pheochromocytomas remains unknown, as does tumor formation (i.e., carotid body tumor) in patients with germline mutations in SDHB, SDHC, and SDHD, genes that encode subunits of the mitochondrial complex II, the smallest com 12381538 Human
nf1 mpd Recipient mice reconstituted with Nf1-/- fetal hematopoietic cells develop a myeloproliferative disease (MPD) that models the human disease. 12393498 Mouse
nf1 primary tumors Somatic NF1 mutations were also detected in two primary tumors exhibiting an MSI phenotype. 12522551 Human
nf1 small cell carcinoma RESULTS: Three cases of small cell carcinoma had mutations in NF1-GRD. 12734724 Human
nf1 lymphoma PURPOSE: To report the occurrence of central nervous system (CNS) lymphoma in a patients with neurofibromatosis type 1 (NF1). 15255115 Human
nf1 brain metastases Disseminated disease prompted concern that her complex intracranial lesions identified by neuroimaging studies might represent brain metastases, but this proved to be NF1-related hamartomatous lesions. 16132517 Human
nf1 solid tumors Most of the solid tumors showed loss of the wild-type Nf1 allele but retained two Trp53 alleles. 16226708 Human
nf1 multiple endocrine neoplasia type 1 PCC may be associated with predisposing (germline) conditions like the multiple endocrine neoplasia type 2 (MEN2; OMIM 164761), von Hippel-Lindau syndrome (VHL; OMIM 193300), and rarely neurofibromatosis type 1 syndrome (NF1; OMIM 162200) and multiple end 16304664 Human
nf1 solid tumors PURPOSE: This pediatric phase I trial of tipifarnib determined the maximum-tolerated dose (MTD), pharmacokinetics, and pharmacodynamics of tipifarnib in children with refractory solid tumors and neurofibromatosis type 1 (NF1) -related plexiform neurofibro 16421428 Human
nf1 human pancreatic cancer Signal therapy of human pancreatic cancer and NF1-deficient breast cancer xenograft in mice by a combination of PP1 and GL-2003, anti-PAK1 drugs (Tyr-kinase inhibitors). 16540233 Human
nf1 common cancer Neurofibromatosis type 1 (NF1) is the most common cancer predisposition syndrome. 16797490 Human
nf1 oropharyngeal tumor Prenatal ultrasound and magnetic resonance imaging (MRI) demonstrated a large oropharyngeal tumor, and cardiac and cranial abnormalities consistent with neurofibromatosis type 1 (NF1) in a third-trimester fetus, which were confirmed on postmortem examinat 16981221 Human
nf1 men We mapped the MenX locus to the distal part of rat chromosome 4, excluding the homologs of the genes responsible for the MEN syndromes (RET and MEN1) and syndromes with an endocrine tumor component (VHL and NF1). 17030811 Rat
nf1 adrenal pheochromocytoma Hereditary adrenal pheochromocytoma is caused by germline mutations in RET, VHL, SDHB, SDHD, and NF1. 17102110 Human
nf1 ependymoma Correlation with glioma oncogenesis demonstrated the following associations: 1) p53 mutation (Li-Fraumeni) with astrocytoma progression; 2) NF1 mutation (NF1) with pilocytic astrocytomas; and 3) NF2 mutation (NF2) with ependymoma formation. 17168501 Human
nf-1 chronic lymphocytic leukemia (cll) We present two cases, an adult patient with chronic lymphocytic leukemia (CLL) and a child with neurofibromatosis type-1 (NF-1), where the abrupt appearance of severe anemia raised ominous clinical suspicions. 17178664 Human
nf-1 schwannomatosis In our case, schwannomatosis, multiple schwannomas were present in a 21-yr-old woman with no stigmata or family history of NF-1 or NF-2. 17179704 Human

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