Tumoral EPAS1 (HIF2A) mutations explain sporadic pheochromocytoma and paraganglioma in the absence of erythrocytosis.

doi:10.1093/hmg/ddt069

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Article

Tumoral EPAS1 (HIF2A) mutations explain sporadic pheochromocytoma and paraganglioma in the absence of erythrocytosis.

Human molecular genetics - 1 Jun 2013

Comino-Méndez Iñaki, de Cubas Aguirre A, Bernal Carmen, Álvarez-Escolá Cristina, Sánchez-Malo Carolina, Ramírez-Tortosa César L, Pedrinaci Susana, Rapizzi Elena, Ercolino Tonino, Bernini Giampaolo, Bacca Alessandra, Letón Rocío, Pita Guillermoó, Alonso María R, Leandro-García Luis J, Gómez-Graña Alvaro, Inglada-Pérez Lucía, Mancikova Veronika, Rodríguez-Antona Cristina, Mannelli Massimo, Robledo Mercedes, Cascón Alberto

Abstract excerpt

Pheochromocytomas (PCCs) and paragangliomas (PGLs) are chromaffin-cell tumors that arise from the adrenal medulla and extra-adrenal paraganglia, respectively. The dysfunction of genes involved in the cellular response to hypoxia, such as VHL, EGL nine homolog 1, and the succinate dehydrogenase (SDH) genes, leads to a direct abrogation of hypoxia inducible factor (HIF) degradation, resulting in a pseudo-hypoxic...

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Identifiers

PMID: 23418310
DOI: 10.1093/hmg/ddt069

Genes

EPAS1
VHL
GNA14
PCSK6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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