Endocrine Abstracts

Background: Von Hippel-Lindau disease (VHL) is an autosomal dominant disease, characterized by haemangioblastomas of the retina and CNS, renal cell carcinomas (RCC) and renal cysts, pheochromocytomas, pancreatic neuroendocrine tumors and cysts, and endolymphatic sac tumors. VHL is associated with a germline mutation of the VHL tumor suppressor gene on the short arm of chromosome 3. The type-1 disease is caused by mutations, leading to severe disruption of protein acti...