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National Cancer Institute®
Ultima Vez Modificado: 1 de junio del 2002
UI - 11904334
AU - Kimura N; Watanabe T; Fukase M; Wakita A; Noshiro T; Kimura I
TI - Neurofibromin and NF1 gene analysis in composite pheochromocytoma and tumors associated with von Recklinghausen's disease.
SO - Mod Pathol 2002 Mar;15(3):183-8
AD - Department of Pathology and Laboratory Medicine, Tohoku Rosai Hospital, Sendai, Japan. firstname.lastname@example.org
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). 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 pheochromocytoma and in various tumors from five patients with NF1. 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. However, it was strongly expressed in ganglionic cells and pheochromocytoma cells of the composite pheochromocytomas and also in mucosal ganglioneuromas, a gangliocytic paraganglioma, and in pheochromocytomas from the patients with NF1. Although there was no mutation in NF1 Exon 31, it could not be ruled out that there were mutations in other sites of the NF1 gene. Neurofibromin insufficiency may induce abnormal proliferation of Schwann cells in composite pheochromocytomas as well as in neurofibromatosis.
UI - 11910511
AU - Liew MA; Coffin CM; Fletcher JA; Hang MT; Tanito K; Niimura M; Viskochil
TI - D Peripheral nerve sheath tumors from patients with neurofibromatosis type 1 do not have the chromosomal translocation t(X;18).
SO - Pediatr Dev Pathol 2002 Mar-Apr;5(2):165-9
AD - Department of Pediatrics, Division of Medical Genetics, University of Utah, 50 North Medical Drive, Salt Lake City, UT 84132, USA.
Neurofibromatosis type 1 (NF1) is a common autosomal dominant genetic disorder that is caused by a mutation in the NF1 gene. Hallmark characteristics include dermal neurofibromas, cafe-au-lait spots, and learning disabilities. In approximately 25% of NF1 cases, plexiform neurofibromas, or peripheral nerve sheath tumors (PNSTs) that involve large segments of nerve sheath and nerve root, can form, of which a small percentage become malignant (MPNST). Most MPNSTs are composed of spindled neoplastic cells, and they can resemble other spindle-cell sarcomas, including leiomyosarcoma and monophasic synovial sarcoma. Histological diagnosis of MPNST is not always straightforward, and various immunohistochemical and molecular adjuncts can be critical in establishing a correct diagnosis. One example of genetic testing is the assay for the t(X;18) chromosomal translocation, which has been found to be common in synovial sarcomas. The aim of this study was to determine whether MPNSTs contain the t(X;18) chromosomal translocation. To detect the t(X;18) translocation product, SYT-SSX, total RNA was extracted from frozen archival tumors (15 dermal neurofibromas, 4 plexiform neurofibromas, and 7 MPNSTs) using Trizol. The RNA was then subjected to reverse-transcriptase polymerase chain reaction (RT-PCR) to specifically amplify SYT-SSX. None of the dermal neurofibromas, plexiform neurofibromas, or MPNSTs analyzed were positive for SYT-SSX mRNA. The results indicate that the t(X;18) translocation is absent in neurofibromas and is not a marker for MPNST in patients with NF1.
UI - 11941479
AU - Gervasini C; Bentivegna A; Venturin M; Corrado L; Larizza L; Riva P
TI - Tandem duplication of the NF1 gene detected by high-resolution FISH in the 17q11.2 region.
SO - Hum Genet 2002 Apr;110(4):314-21
AD - Department of Biology and Genetics, Medical Faculty, University of Milan, Via Viotti 3/5, 20133 Milan, Italy.
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. We have previously shown by means of high resolution fluorescence in situ hybridization (FISH) that a number of the loci flanking the NF1 gene are duplicated, in agreement with the reported presence of NF1 repetitive sequences (REPs). We report a direct tandem duplication of the NF1 gene identified in 17q11.2 by high-resolution FISH. FISH on stretched chromosomes with locus-specific probes revealed the duplication of the NF1 gene from the promoter to 3'UTR, but with at least the absence of exon 22. Fiber FISH with P1 artificial and bacterial artifical chromosomes, including the NF1 5'UTR and 3'UTR and flanking regions, visualized the direct tandem duplication with a similar, but not identical, genomic organization of the NF1 duplicon copies. Duplication was probably present in the human-chimpanzee-gorilla common ancestor, as demonstrated here by the finding of the duplicated NF1 gene at orthologous chromosome loci. The NF1 intrachromosomal duplication may contribute to the high whole-gene mutation rate by gene conversion, although the functional activity of the NF1 copy remains to be investigated. Detection of the NF1 duplicon by high-resolution FISH may pave the way to filling the gaps in the human genomic sequence of the pericentromeric 17q11.2 region.
UI - 8833251
AU - Rasmussen SA; Ho VT; Colman SD; Abernathy CR; Wallace MR
TI - A multiplex-PCR test for EVI2A and EVI2B polymorphisms within the human NF1 gene.
SO - Mamm Genome 1996 Mar;7(3):233-4
AD - Department of Pediatrics, University of Florida College of Medicine, Gainesville 32610-0296, USA.
UI - 10980545
AU - Girodon-Boulandet E; Pantel J; Cazeneuve C; Gijn MV; Vidaud D; Lemay S;
TI - Martin J; Zeller J; Revuz J; Goossens M; Amselem S; Wolkenstein P NF1 gene analysis focused on CpG-rich exons in a cohort of 93 patients with neurofibromatosis type 1.
SO - Hum Mutat 2000 Sep;16(3):274-5
AD - Service de Biochimie et de Genetique and INSERM U468, Hopital Henri-Mondor, 94010 Creteil Cedex, France.
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. We used denaturing gradient gel electrophoresis to analyse exons 16, 28, 29 and 49, which contain 45 (25%) of the 183 possible mutations that could occur at the 120 CpG dinucleotides of the coding sequence. Six different mutations were identified, five of which are novel: two truncating mutations, W1810X and 5448insG, located in exon29; two splice defects leading to exon29 skipping, 5206-2A>G and 5546G>A; and one missense mutation, L844F, located in exon16. The already described R1748X mutation located in exon29 was found in two unrelated patients. The 5546G>A and R1748X mutations are located at CpG sites, whereas the W1810X involves a CpNpG site. Four novel polymorphisms, which may be helpful for family studies, were also identified. Overall, all but one mutations were found in exon29, a result which suggests that all the CpG sites of the NF1 coding sequence do not have the same mutability, and that exon29, the most CpG-rich exon, contains mutational hotspots associated with NF1. Copyright 2000 Wiley-Liss, Inc.
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