Novel NF1 gene mutation in a Japanese patient with neurofibromatosis type 1 and a gastrointestinal stromal tumor
| ISSN: | 0944-1174 |
|---|---|
| Přístupová URL adresa: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ddeac7a5e488ce2dc88066554e7fa67e https://pubmed.ncbi.nlm.nih.gov/16741618 |
| Rights: | CLOSED |
| Přírůstkové číslo: | edsair.doi.dedup.....ddeac7a5e488ce2dc88066554e7fa67e |
| Autor: | Yutaka Sanada, Bruno Dallapiccola, Annalisa Schirinzi, Shoji Sasaya, Genshu Tate, Takemasa Midorikawa, Yasuo Yoshizawa, Hiroshi Nemoto, Takao Suzuki, Toshiyuki Mitsuya |
| Rok vydání: | 2005 |
| Předmět: |
congenital
hereditary and neonatal diseases and abnormalities Neurofibromatosis 1 Gastrointestinal Stromal Tumors Gene mutation Biology medicine.disease_cause Exon Genes Neurofibromatosis 1 medicine Humans RNA Neoplasm Neurofibromatosis neoplasms Gene Mutation GiST Reverse Transcriptase Polymerase Chain Reaction Gastroenterology Intron Middle Aged medicine.disease Molecular biology Immunohistochemistry eye diseases nervous system diseases Cancer research Female SDHD |
| Zdroj: | Journal of gastroenterology. 41(4) |
| ISSN: | 0944-1174 |
| Popis: | Many mutations of the NF1 gene have been reported in patients with neurofibromatosis type 1 (NF1); however, there have been no documented NF1 gene mutations in Japanese NF1 patients. In the present study, we used the polymerase chain reaction (PCR) and DNA sequencing analysis to characterize the NF1 gene in a 53-year-old Japanese patient with NF1 who suffered from neurofibroma, pheochromocytoma, and gastrointestinal stromal tumor (GIST). Direct sequence analyses revealed a single base substitution in the splicing donor site of intron 6 (IVS6 888+1, G --> A) in one NF1 allele, resulting in an altered splice site (ss) in the mutated allele. Splicing at the cryptic 5' ss in the mutated allele generated mRNA with an insertion of 60 nucleotides. In addition, we screened for mutations in exons 9, 11, 13, and 17 of the c-kit gene in GIST and the succinate dehydrogenase subunit D (SDHD) gene in the pheochromocytoma, but we did not detect any somatic mutations. We report here the first case of an NF1 patient with four neoplasms: neurofibroma, pheochromocytoma, astrocytoma and GIST. Our results suggest that the molecular pathogenesis of GISTs in NF1 patients is different from that in non-NF1 patients. |
| Databáze: | OpenAIRE |
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