Von Hippel–Lindau Syndrome
2018
Von Hippel–Lindau syndrome (VHL) is a heritable neoplastic disease resulting in multisystem carcinoma, benign tumors, and cysts. VHL is inherited in an autosomal dominant manner and could result in benign or malignant tumors, with high penetrance affecting multiple organ systems, including the central nervous system (CNS) and visceral organs [1]. Incidences of VHL are associated with a germline mutation of a tumor suppressor gene, VHL, on the short arm of chromosome 3 (3p25.5) [2].
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