Mutation in Chek2 triggers von Hippel-Lindau hemangioblastoma growth.

ABSTRACT:

Purpose

Von Hippel-Lindau (VHL) is a rare inherited disease mainly characterized by the growth of tumours, predominantly hemangioblastomas (Hbs) in the CNS and retina, and renal carcinomas. The natural history of VHL disease is variable, differing in the age of onset and its penetrance, even among relatives. Unfortunately, sometimes VHL shows more severe than average: the onset starts in adolescence, and surgeries are required almost every year. In these cases, the factor that triggers the appearance and growth of Hbs usually remains unknown, although additional mutations are suspected.

Methods

We present the case of a VHL patient whose first surgery was at 13 years of age. Then, along his next 8 years, he has undergone 5 surgeries for resection of 10 CNS Hbs. To clarify thi

SUBMITTER: Cabrera-Montes J 

PROVIDER: S-EPMC10739370 | biostudies-literature | 2023 Dec

REPOSITORIES: biostudies-literature