chapter  60
von Hippel–Lindau disease
ByEamonn R. Maher
Pages 10

Von Hippel-Lindau (VHL) disease (MIM Number, 193300) is a dominantly inherited familial cancer syndrome caused by germline mutations in the VHL tumor suppressor gene (Latif et al., 1993). VHL disease demonstrates marked phenotypic variability and age-dependent penetrance (Maher et al., 1990a). The most frequent tumors are retinal and central nervous system hemangioblastomas, renal cell carcinoma (RCC), pheochromocytoma, pancreatic endocrine tumors, and endolymphatic sac tumors (ELSTs). In addition renal, pancreatic and epididymal cysts are common.