[von Hippel-Lindau disease].

Abstract

Von Hippel-Lindau (VHL) disease is an autosomal dominantly inherited tumor syndrome. The incidence of VHL disease is assessed about one in 36,000 livebirths and the penetrance is higher than 90%. Similar to other tumor suppressor gene disorders, VHL disease is characterized by frequent development of specific types of tumors in selective organs. The disease is named after the German ophthalmologist Eugen von Hippel, who identified and described characteristic retinal manifestations, and the Swedish Pathologist Arvid Lindau, who discovered the frequent co-occurrence of retinal and cerebellar hemangioblastoma with tumors and cysts in visceral organs. He described the clinical spectrum of VHL disease in detail in a large series of cases from Sweden but also from other European countries. A clinical classification system divides individuals who are affected by VHL disease into two groups: Those predominantly without pheochromocytoma are classified as VHL type 1, and those predominantly with pheochromocytoma classified as VHL type 2. VHL type 2 is further subdivided into type 2A (with renal cancer) and type 2B (without renal cancer). In type 2C affected patients develop solely pheochromocytomas. of proteins of the and that lead to upregulation and refunctionalization of mutated VHL protein.