Case Report: Aggressive neural crest tumors in a child with familial von Hippel Lindau syndrome associated with a germline VHL mutation (c.414A>G) and a novel KIF1B gene mutation

Case Report: Aggressive neural crest tumors in a child with familial von Hippel Lindau syndrome associated with a germline VHL mutation (c.414A>G) and a novel KIF1B gene mutation

IntroductionVon Hippel Lindau (VHL) syndrome is caused by an autosomal dominant hereditary or sporadic germline mutation of the VHL gene with more than five hundred pathogenic mutations identified. Pheochromocytomas and rarely paragangliomas occur in 10-50% of patients with VHL syndrome usually arou...

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Bibliographic Details
Main Authors: Lucie Landen, Anne De Leener, Manon Le Roux, Bénédicte Brichard, Selda Aydin, Dominique Maiter, Philippe A. Lysy
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-07-01
Series:Frontiers in Endocrinology
Subjects:
Von Hippel Lindau
pheochromocytoma
KIF1B gene
neural crest tumors
blood hypertension
Online Access:https://www.frontiersin.org/articles/10.3389/fendo.2023.1204793/full

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