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Medline ® Abstract for Reference 89

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

Somatic mosaicism in von Hippel-Lindau Disease.
Murgia A, Martella M, Vinanzi C, Polli R, Perilongo G, Opocher G
Hum Mutat. 2000;15(1):114.
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.
Department of Pediatrics, University of Padua, Italy. alessm@child.pedi.unipd.it