Genetic characterization of a rare case of pheochromocytoma in a pulmonary transplant patient
We describe a rare case of PCC in a pulmonary transplant recipient, with genetic analyses showing no germline pathogenic variants and no somatic variants in the <i>EPAS1</i> gene. RNA sequencing highlighted HIF pathway activation and angiogenic implications. Further research is necessary to elucidate the genetic and molecular mechanisms underlying PCCs in this specific case and determine its link with hypoxemia in the context of pulmonary disease.
Authors
- Florence Perreault
- Stéfanie Parisien‐La Salle (ORCID: https://orcid.org/0000-0001-5960-4181)
- Martine Tétreault (ORCID: https://orcid.org/0000-0001-7124-5919)
- Marjorie Labrecque (ORCID: https://orcid.org/0000-0002-6150-4144)
- Christian Cohade
- Isabelle Bourdeau (ORCID: https://orcid.org/0000-0002-8000-4313)
- Gilles Corbeil
- Pasquale Ferraro (ORCID: https://orcid.org/0000-0003-3809-106X)
- Charles Poirier (ORCID: https://orcid.org/0000-0003-0689-6349)
- Julie Morisset
- Catherine Beauregard
- Agnès Räkel
Institutions
- Centre Hospitalier de l’Université de Montréal (CA)
- Université de Montréal (CA)
Publication Details
- Journal
- Frontiers in Endocrinology
- Published
- 2025-02-06
- DOI
- https://doi.org/10.3389/fendo.2024.1481906
- Primary Topic
- Adrenal and Paraganglionic Tumors
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Cancer Research Society
- Fonds de Recherche du Québec - Santé