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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Frontiers Media S.A.
2025-02-01
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| Series: | Frontiers in Endocrinology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fendo.2024.1481906/full |
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| author | Stéfanie Parisien-La Salle Florence Perreault Gilles Corbeil Julie Morisset Charles Poirier Catherine Beauregard Agnès Räkel Marjorie Labrecque Martine Tétreault Martine Tétreault Christian Cohade Pasquale Ferraro Isabelle Bourdeau |
| author_facet | Stéfanie Parisien-La Salle Florence Perreault Gilles Corbeil Julie Morisset Charles Poirier Catherine Beauregard Agnès Räkel Marjorie Labrecque Martine Tétreault Martine Tétreault Christian Cohade Pasquale Ferraro Isabelle Bourdeau |
| author_sort | Stéfanie Parisien-La Salle |
| collection | DOAJ |
| description | 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 factor 2-alpha (HIF-2α), involved in PPGL tumorigenesis.ObjectiveTo describe a rare case of PCC in a pulmonary transplant patient and characterize the tumour’s genetic background.Clinical CaseA 47 year-old man underwent a lung transplant for chronic obstructive pulmonary disease associated with alpha-1 antitrypsin deficiency. He required home oxygen therapy for 3 years prior to transplant. Nineteen years after transplant, a CT-scan revealed a 5.8 cm x 3.9 cm heterogeneous right adrenal mass (HU of 7). Initial assessments indicated elevated 24-hour urinary catecholamines. Consequently, the patient underwent laparoscopic right adrenalectomy, confirming the PCC diagnosis.Genetic studies1) Germline PPGL multigene panel: After consent, the patient underwent a panel of 14 susceptibility genes for PPGLs that revealed no pathogenic variants. 2) Somatic genetic analysis for EPAS1 gene found no variants. However, tumoral RNA sequencing unveiled activation of the HIF pathway.ConclusionWe 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 EPAS1 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. |
| format | Article |
| id | doaj-art-d5ba2f946827409893e6e71faacae07c |
| institution | Kabale University |
| issn | 1664-2392 |
| language | English |
| publishDate | 2025-02-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Endocrinology |
| spelling | doaj-art-d5ba2f946827409893e6e71faacae07c2025-02-06T05:21:51ZengFrontiers Media S.A.Frontiers in Endocrinology1664-23922025-02-011510.3389/fendo.2024.14819061481906Genetic characterization of a rare case of pheochromocytoma in a pulmonary transplant patientStéfanie Parisien-La Salle0Florence Perreault1Gilles Corbeil2Julie Morisset3Charles Poirier4Catherine Beauregard5Agnès Räkel6Marjorie Labrecque7Martine Tétreault8Martine Tétreault9Christian Cohade10Pasquale Ferraro11Isabelle Bourdeau12Division of Endocrinology, Department of Medicine, Centre hospitalier de l’Université de Montréal Research Center (CRCHUM), Montreal, QC, CanadaDivision of Endocrinology, Department of Medicine, Centre hospitalier de l’Université de Montréal Research Center (CRCHUM), Montreal, QC, CanadaDivision of Endocrinology, Department of Medicine, Centre hospitalier de l’Université de Montréal Research Center (CRCHUM), Montreal, QC, CanadaDivision of Respirology, Department of Medicine, Centre hospitalier de l’Université de Montréal Research Center (CRCHUM), Montreal, QC, CanadaDivision of Respirology, Department of Medicine, Centre hospitalier de l’Université de Montréal Research Center (CRCHUM), Montreal, QC, CanadaDivision of Endocrinology, Department of Medicine, Centre hospitalier de l’Université de Montréal Research Center (CRCHUM), Montreal, QC, CanadaDivision of Endocrinology, Department of Medicine, Centre hospitalier de l’Université de Montréal Research Center (CRCHUM), Montreal, QC, CanadaNeuroscience Division, Centre de Recherche du Centre Hospitalier de l’Université de Montréal (CRCHUM), Montreal, QC, CanadaNeuroscience Division, Centre de Recherche du Centre Hospitalier de l’Université de Montréal (CRCHUM), Montreal, QC, CanadaDepartment of Neurosciences, University of Montreal, Montreal, QC, CanadaDivision of Nuclear Medicine, Department of Radiology, Centre hospitalier de l’Université de Montréal (CHUM), Montreal, QC, CanadaDivision of Thoracic Surgery, Department of Surgery, Centre hospitalier de l’Université de Montréal Research Center (CRCHUM), Montreal, QC, CanadaDivision of Endocrinology, Department of Medicine, Centre hospitalier de l’Université de Montréal Research Center (CRCHUM), Montreal, QC, CanadaBackgroundPheochromocytomas (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 factor 2-alpha (HIF-2α), involved in PPGL tumorigenesis.ObjectiveTo describe a rare case of PCC in a pulmonary transplant patient and characterize the tumour’s genetic background.Clinical CaseA 47 year-old man underwent a lung transplant for chronic obstructive pulmonary disease associated with alpha-1 antitrypsin deficiency. He required home oxygen therapy for 3 years prior to transplant. Nineteen years after transplant, a CT-scan revealed a 5.8 cm x 3.9 cm heterogeneous right adrenal mass (HU of 7). Initial assessments indicated elevated 24-hour urinary catecholamines. Consequently, the patient underwent laparoscopic right adrenalectomy, confirming the PCC diagnosis.Genetic studies1) Germline PPGL multigene panel: After consent, the patient underwent a panel of 14 susceptibility genes for PPGLs that revealed no pathogenic variants. 2) Somatic genetic analysis for EPAS1 gene found no variants. However, tumoral RNA sequencing unveiled activation of the HIF pathway.ConclusionWe 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 EPAS1 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.https://www.frontiersin.org/articles/10.3389/fendo.2024.1481906/fullpheochromocytomahypoxiageneticsRNA-sequencingtransplant |
| spellingShingle | Stéfanie Parisien-La Salle Florence Perreault Gilles Corbeil Julie Morisset Charles Poirier Catherine Beauregard Agnès Räkel Marjorie Labrecque Martine Tétreault Martine Tétreault Christian Cohade Pasquale Ferraro Isabelle Bourdeau Genetic characterization of a rare case of pheochromocytoma in a pulmonary transplant patient Frontiers in Endocrinology pheochromocytoma hypoxia genetics RNA-sequencing transplant |
| title | Genetic characterization of a rare case of pheochromocytoma in a pulmonary transplant patient |
| title_full | Genetic characterization of a rare case of pheochromocytoma in a pulmonary transplant patient |
| title_fullStr | Genetic characterization of a rare case of pheochromocytoma in a pulmonary transplant patient |
| title_full_unstemmed | Genetic characterization of a rare case of pheochromocytoma in a pulmonary transplant patient |
| title_short | Genetic characterization of a rare case of pheochromocytoma in a pulmonary transplant patient |
| title_sort | genetic characterization of a rare case of pheochromocytoma in a pulmonary transplant patient |
| topic | pheochromocytoma hypoxia genetics RNA-sequencing transplant |
| url | https://www.frontiersin.org/articles/10.3389/fendo.2024.1481906/full |
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