Somatic EPAS1 variants in phaeochromocytoma and paraganglioma in patients with sickle cell disease.

Gemma WhiteDaisuke NonakaTeng-Teng Chung Rebecca J Oakey Louise Izatt

Published in: The Journal of clinical endocrinology and metabolism (2023)

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 characterise this association.

Keyphrases

copy number
end stage renal disease
ejection fraction
newly diagnosed
current status
dna methylation
patient reported outcomes
drug induced