Somatic EPAS1 Variants in Pheochromocytoma and Paraganglioma in Patients With Sickle Cell Disease
Authors' conclusion
We propose that somatic EPAS1 variants may be acquired through exposure to chronic hypoxia in SCD and drive PPGL development. Future work is needed to further characterize this association.
Study context
- Population
- Patients with pheochromocytoma and paragangliomas (PPGL) and sickle cell disease (SCD) under follow-up at one center, January 2017 to December 2022of 128 PPGL screened
- Participants
- 4 patients
- Outcome
- Phenotype and EPAS1 variant status of patients with PPGL and SCD
Methodological detailssingle-centre, genetic analysis
- Single-centre
- Genetic analysis
Main finding
As reported in the abstract
Phenotype and EPAS1 variant status in patients with PPGL and SCD
- Patients with both PPGL and SCD identified
- 4
- Unique EPAS1 variants detected in tumor tissue
- all 4 patients
- EPAS1 variant detected in lymph node tissue of a patient with metastatic disease
- 1
- Median age at PPGL diagnosis
- 28 years
- Tumor sites
- 3 abdominal paragangliomas, 1 pheochromocytoma
Observational data: associations, not effects.
Further findings
Phenotype
- Median age at PPGL diagnosis
- 28 years
- Abdominal paragangliomas
- 3
- Pheochromocytoma
- 1
Original publication
Somatic EPAS1 Variants in Pheochromocytoma and Paraganglioma in Patients With Sickle Cell Disease. J Clin Endocrinol Metab. Published 7 June 2023. doi:10.
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