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Somatic mosaicism in von Hippel-Lindau disease

✍ Scribed by Alessandra Murgia; Maddalena Martella; Cinzia Vinanzi; Roberta Polli; Giorgio Perilongo; Giuseppe Opocher

Publisher
John Wiley and Sons
Year
2000
Tongue
English
Weight
284 KB
Volume
15
Category
Article
ISSN
1059-7794

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✦ Synopsis

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.

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