Somatic von Hippel-Lindau gene mutations detected in sporadic endolymphatic sac tumors
| Autor: | A O, Vortmeyer, S C, Huang, C A, Koch, L, Governale, R D, Dickerman, P E, McKeever, E H, Oldfield, Z, Zhuang |
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| Rok vydání: | 2000 |
| Předmět: |
Adult
Male von Hippel-Lindau Disease Tumor Suppressor Proteins Ubiquitin-Protein Ligases DNA Mutational Analysis Proteins DNA Neoplasm Middle Aged Ligases Von Hippel-Lindau Tumor Suppressor Protein Mutation Humans Female Genes Tumor Suppressor Endolymphatic Sac Alleles Ear Neoplasms Gene Deletion Polymorphism Single-Stranded Conformational |
| Zdroj: | Cancer research. 60(21) |
| ISSN: | 0008-5472 |
| Popis: | Endolymphatic sac tumors (ELSTs) occur sporadically or in association with an autosomal dominantly inherited tumor syndrome, von Hippel-Lindau (VHL) disease. In VHL disease, a germline mutation of the VHL tumor suppressor gene is inherited, and loss of function of the wild-type allele occurs through genetic deletion with subsequent development of neoplastic growth. Genetic alterations associated with sporadic ELSTs are less well understood. In this study, we used tissue microdissection to selectively analyze neoplastic cells from four sporadic ELSTs. In two cases, we detected somatic mutations involving VHL gene exons 1 and 2, respectively. Additionally, one of these cases revealed deletion of the VHL gene locus. Two cases did not reveal VHL gene mutation; one of these two cases showed VHL gene deletion. These results suggest that mutations and allelic deletions of the VHL tumor suppressor gene play a role in the tumorigenesis of sporadic ELSTs. |
| Databáze: | OpenAIRE |
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