Somatic von Hippel-Lindau gene mutations detected in sporadic endolymphatic sac tumors

Alexander O. Vortmeyer, Steve C. Huang, Christian A. Koch, Lance Governale, Rob D. Dickerman, Paul E. McKeever, Edward H. Oldfield, Zhengping Zhuang

Research output: Contribution to journalArticle

35 Scopus citations

Abstract

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 wen 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 resets suggest that mutations and allelic deletions of the VHL tumor suppressor gene play a role in the tumorigenesis of sporadic ELSTs.

Original languageEnglish (US)
Pages (from-to)5963-5965
Number of pages3
JournalCancer Research
Volume60
Issue number21
StatePublished - Nov 1 2000
Externally publishedYes

ASJC Scopus subject areas

  • Oncology
  • Cancer Research

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    Vortmeyer, A. O., Huang, S. C., Koch, C. A., Governale, L., Dickerman, R. D., McKeever, P. E., Oldfield, E. H., & Zhuang, Z. (2000). Somatic von Hippel-Lindau gene mutations detected in sporadic endolymphatic sac tumors. Cancer Research, 60(21), 5963-5965.