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Article

Somatic gain-of-function HIF2A mutations in sporadic central nervous system hemangioblastomas.

Journal of neuro-oncology - 1 Feb 2016

Taïeb David, Barlier Anne, Yang Chunzhang, Pertuit Morgane, Tchoghandjian Aurélie, Rochette Claire, Zattara-Canoni Hélène, Figarella-Branger Dominique, Zhuang Zhengping, Pacak Karel, Metellus Philippe

Abstract excerpt

Central nervous system hemangioblastomas (CNS-HBs) occur sporadically or as a component of von Hippel-Lindau-VHL syndrome. CNS-HBs share some molecular similarities with pheochromocytomas/paragangliomas (PPGLs) and renal cell carcinomas (RCCs). Recently, hypoxia-inducible factors, particularly somatic HIF2A mutations, have been found to play an important role in the pathogenesis of PPGLs. Somatic mutations in...

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Identifiers

PMID: 26514359
DOI: 10.1007/s11060-015-1983-y

Genes

VHL

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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