title: Somatic mosaicism in von Hippel-Lindau Disease.
abstract: 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.
authors.affiliation: Department of Pediatrics, University of Padua, Italy. alessm@child.pedi.unipd.it
authors.forename: A
authors.initials: A
authors.lastname: Murgia
authors.forename: M
authors.initials: M
authors.lastname: Martella
authors.forename: C
authors.initials: C
authors.lastname: Vinanzi
authors.forename: R
authors.initials: R
authors.lastname: Polli
authors.forename: G
authors.initials: G
authors.lastname: Perilongo
authors.forename: G
authors.initials: G
authors.lastname: Opocher
mesh_terms: D000328:Adult; D002528:Cerebellar Neoplasms / Q000175:diagnosis; D005260:Female; D016147:Genes, Tumor Suppressor / Q000235:genetics; D018325:Hemangioblastoma / Q000175:diagnosis; D006391:Hemangioma / Q000175:diagnosis; D006801:Humans; D052177:Kidney Diseases, Cystic / Q000175:diagnosis; D008025:Ligases; D008297:Male; D008875:Middle Aged; D009030:Mosaicism; D009154:Mutation; D009378:Neoplasms, Multiple Primary / Q000175:diagnosis; D010375:Pedigree; D010673:Pheochromocytoma / Q000175:diagnosis / Q000235:genetics; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D011506:Proteins / Q000235:genetics*; D019572:Retinal Neoplasms / Q000175:diagnosis; D025521:Tumor Suppressor Proteins; D044767:Ubiquitin-Protein Ligases; D051794:Von Hippel-Lindau Tumor Suppressor Protein; D006623:von Hippel-Lindau Disease / Q000145:classification / Q000235:genetics*
chemical_list: D011506:Proteins; D025521:Tumor Suppressor Proteins; D044767:Ubiquitin-Protein Ligases; D051794:Von Hippel-Lindau Tumor Suppressor Protein; D008025:Ligases; C497446:VHL protein, human