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Somatic mosaicism in von Hippel‐Lindau disease
Author(s) -
Murgia Alessandra,
Martella Maddalena,
Vinanzi Cinzia,
Polli Roberta,
Perilongo Giorgio,
Opocher Giuseppe
Publication year - 2000
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/(sici)1098-1004(200001)15:1<114::aid-humu20>3.0.co;2-7
Subject(s) - biology , von hippel–lindau disease , somatic cell , disease , genetics , pathology , gene , medicine
von Hippel‐Lindau (VHL) disease is an autosomal dominant familial cancer syndrome predisposing to the development of retinal and central nervous system haemangioblastomas, pheochromocytomas, renal and pancreatic cancer. In the course of a molecular analysis conducted to detect germline mutations of this gene in von Hippel‐Lindau patients and individuals affected by sporadic tumors, we have identified a case of somatic mosaicism in the asymptomatic mother of a VHL patient who was subsequently diagnosed with pheochromocytoma. This is the first report providing molecular evidence of somatic mosaicism in von Hippel‐Lindau disease. Mosaicism could provide some genetic explanation for the clinical heterogeneity and variable severity of the VHL phenotype, and should be considered, as a possible event when evaluating sporadic cases of VHL or patients with isolated VHL‐related tumors. Hum Mutat 15:114, 2000. © 2000 Wiley‐Liss, Inc.