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

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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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
Series:Frontiers in Endocrinology
Subjects:
pheochromocytoma
hypoxia
genetics
RNA-sequencing
transplant
Online Access:https://www.frontiersin.org/articles/10.3389/fendo.2024.1481906/full
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