Von Hippel-Lindau Syndrome: the Family Clinical Case and Brief Review of the Literature

Von Hippel-Lindau syndrome (VHLS) (VON HIPPEL-LINDAU SYNDROME; VHLS OMIM # 193,300) is an inherited familial cancer predisposition syndrome caused by mutations in the VHL gene located on 3p25.3. It is a rare hereditary autosomal dominant disease with a population frequency of one in 36,000 people. VHLS is characterized by a predisposition to the development of different types of tumors with several localizations, such as visceral and central nervous system (hemangioblastoma, paraganglioma), pheochromocytoma, pancreatic cancer cell carcinoma, adenocarcinoma of ampulla of vater, hypernephroma, and kidney cancer. Affected individuals have a high lifetime risk of tumor developing—over 90% penetrance by 65 years. Herein, we present a case of a native Caucasian woman with multiple pancreatic and kidney cysts and nonsense genetic variant c.203C > A (p.S68*) in VHL gene.