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Blood. 2013 Mar 28;121(13):2563-6. doi: 10.1182/blood-2012-10-460972. Epub 2013 Jan 29.

Novel HIF2A mutations disrupt oxygen sensing, leading to polycythemia, paragangliomas, and somatostatinomas.

Author information

1
Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20894, USA.

Abstract

Hypoxia-inducible factors (HIFs) control the cellular response to hypoxia and, when dysregulated, contribute to tumorigenesis. Previously, we identified 2 gain-of-function somatic mutations in patients presenting with multiple paragangliomas or somatostatinomas, and polycythemia. Here, we report 2 additional unique HIF2A mutations, which disrupt the hydroxylation domain recognized by prolyl hydroxylase domain-2 containing protein, leading to stabilization of HIF-2α and increased expression of hypoxia-related genes.

PMID:
23361906
PMCID:
PMC3612863
DOI:
10.1182/blood-2012-10-460972
[Indexed for MEDLINE]
Free PMC Article

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