Genetic characterization of a rare case of pheochromocytoma in a pulmonary transplant patient

BackgroundPheochromocytomas (PCCs) and paragangliomas (PGLs) (PPGLs) are rare tumours arising from the chromaffin cells. There is evidence suggesting a link between hypoxemia and PPGLs. Chronic hypoxia can lead to gain of function somatic variants in the EPAS1 gene that encodes for hypoxia-inducible...

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Bibliographic Details

Published in:	Frontiers in Endocrinology
Main Authors:	Stéfanie Parisien-La Salle, Florence Perreault, Gilles Corbeil, Julie Morisset, Charles Poirier, Catherine Beauregard, Agnès Räkel, Marjorie Labrecque, Martine Tétreault, Christian Cohade, Pasquale Ferraro, Isabelle Bourdeau
Format:	Article
Language:	English
Published:	Frontiers Media S.A. 2025-02-01
Subjects:	pheochromocytoma hypoxia genetics RNA-sequencing transplant
Online Access:	https://www.frontiersin.org/articles/10.3389/fendo.2024.1481906/full