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Medline ® Abstract for Reference 57

of 'Clinical features, diagnosis, and management of von Hippel-Lindau disease'

Somatic von Hippel-Lindau gene mutations detected in sporadic endolymphatic sac tumors.
Vortmeyer AO, Huang SC, Koch CA, Governale L, Dickerman RD, McKeever PE, Oldfield EH, Zhuang Z
Cancer Res. 2000;60(21):5963.
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.
Molecular Pathogenesis Unit, National Institute of Neurological Disorders and Stroke, Bethesda, Maryland 20892, USA.