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Article

Expanding the clinical tumor phenotype of the EPAS1-asssociated tumor syndrome.

The Journal of clinical endocrinology and metabolism - 19 May 2026

Cole Yasemin, Howarth Sophie, Javaid Asna, Tarpey Patrick, Scoffings Daniel, Maher Eamonn R, Godfrey Anna L, Pacak Karel, Zhuang Zhengping, Alkaissi Hussam, Casey Ruth T

Abstract excerpt

CONTEXT: Since the original discovery of the Pacak-Zhuang syndrome (PZS) in 2012, defined by the clinical triad of pheochromocytoma/paraganglioma (PPGL) and/or duodenal ampullar somatostatinoma with erythrocytosis, multiple multisystemic phenotypes have been identified in patients with somatic mosaic pathogenic variants in EPAS1/HIF2A. Deep phenotyping of patients along with evaluation of a transgenic murine...

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Adrenal Gland Neoplasms
Aged
Basic Helix-Loop-Helix Proteins
Neuroendocrine Tumors
Pancreatic Neoplasms

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Pheochromocytoma

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Identifiers

PMID: 41518596
DOI: 10.1210/clinem/dgag003
PMCID: PMC13183419

Genes

EPAS1
VHL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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