Somatic mosaicism in von Hippel-Lindau Disease.

A. Murgia, M. Martella, C. Vinanzi, R. Polli, G. Perilongo, G. Opocher

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)114
Number of pages1
JournalHuman Mutation
Issue number1
Publication statusPublished - Jan 2000

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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