Expanding the clinical tumor phenotype of the EPAS1 -asssociated tumor syndrome
Authors' conclusion
This case study extends our current understanding of the phenotypic spectrum in PZS and links pancreatic NETs to an additional hypoxia-associated gene, namely EPAS1.
Study context
- Population
- Patients with Pacak-Zhuang syndrome (PZS; somatic mosaic EPAS1/HIF2A pathogenic variants): index patient at Addenbrooke's Hospital (UK) and NIH cohort, assessed for pancreatic neuroendocrine tumors (NETs)
- Outcome
- Pancreatic NETs in PZS
Methodological detailstwo institutions
- Two institutions
Main finding
As reported in the abstract
- Novel series of patients with EPAS1-associated pancreatic NETs, including a nonfunctioning pancreatic NET with an EPAS1 somatic mosaic variant
Observational data: associations, not effects.
Original publication
Expanding the clinical tumor phenotype of the EPAS1 -asssociated tumor syndrome. J Clin Endocrinol Metab. Published 10 January 2026. doi:10.
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