Novel Gene Variants in a Nationwide Cohort of Patients with Pheochromocytoma and Paraganglioma

Pheochromocytomas (PCCs) and paragangliomas (PGLs), denoted PPGLs, are rare neuroendocrine tumours and are highly heterogeneous. The phenotype–genotype correlation is poor; therefore, additional studies are needed to understand their pathogenesis. We describe the clinical characteristics o...

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Autores: Martínez de la Piscina Martín, Idoia, Diego Perojo, Estrella, Baquero, Candela, Fernández Rubio, Elsa, Menéndez, Edelmiro, Moure, María Dolores, Ruiz de Azua, Teresa, Castaño González, Luis Antonio, Valdés, Nuria
Tipo de recurso: artículo
Fecha de publicación:2024
País:España
Institución:Universidad del País Vasco
Repositorio:Addi. Archivo Digital para la Docencia y la Investigación
OAI Identifier:oai:addi.ehu.eus:10810/70634
Acceso en línea:http://hdl.handle.net/10810/70634
Access Level:acceso abierto
Palabra clave:pheochromocytoma
paraganglioma
genetics
germline
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spelling Novel Gene Variants in a Nationwide Cohort of Patients with Pheochromocytoma and ParagangliomaMartínez de la Piscina Martín, IdoiaDiego Perojo, EstrellaBaquero, CandelaFernández Rubio, ElsaMenéndez, EdelmiroMoure, María DoloresRuiz de Azua, TeresaCastaño González, Luis AntonioValdés, NuriapheochromocytomaparagangliomageneticsgermlinePheochromocytomas (PCCs) and paragangliomas (PGLs), denoted PPGLs, are rare neuroendocrine tumours and are highly heterogeneous. The phenotype–genotype correlation is poor; therefore, additional studies are needed to understand their pathogenesis. We describe the clinical characteristics of 63 patients with PPGLs and perform a genetic study. Genetic screening was performed via a targeted gene panel, and clinical variables were compared among patients with a positive molecular diagnosis and negative ones in both PCC and PGL cohorts. The mean age of patients with PCC was 50.0, and the mean age of those with PGL was 54.0. Disease-causing germline variants were identified in 16 individuals (25.4%), twelve and five patients with PCC and PGL, respectively. Genetically positive patients were younger at diagnosis in both cohorts. Variants in genes associated with either isolated PPGLs or syndromic forms of the disease were detected in a cohort of PPGLs. We have identified novel variants in known genes and set the importance of genetic screening to every patient with PPGLs, with a special focus on the young. A longer follow up of patients with variants in genes associated with syndromic forms is of clinical value.This research was funded in part by grants from the Basque Department of Education (IT739-22), the Basque Department of Health (2023111057), and the Basque Foundation for Health Innovation and Research (BIO/20/CI/006/BCB). A postdoctoral fellowship from the Education Department of the Basque Government (Spain) was granted to IM, and a personal research fellowship from the Fundación Jesús de Gangoiti was granted to CB.MDPI2024202420242024info:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10810/70634reponame:Addi. Archivo Digital para la Docencia y la Investigacióninstname:Universidad del País VascoIngléshttps://www.mdpi.com/1422-0067/25/22/12056info:eu-repo/semantics/openAccesshttp://creativecommons.org/licenses/by/4.0/es/© 2024 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/ 4.0/).oai:addi.ehu.eus:10810/706342026-06-18T09:23:17Z
dc.title.none.fl_str_mv Novel Gene Variants in a Nationwide Cohort of Patients with Pheochromocytoma and Paraganglioma
title Novel Gene Variants in a Nationwide Cohort of Patients with Pheochromocytoma and Paraganglioma
spellingShingle Novel Gene Variants in a Nationwide Cohort of Patients with Pheochromocytoma and Paraganglioma
Martínez de la Piscina Martín, Idoia
pheochromocytoma
paraganglioma
genetics
germline
title_short Novel Gene Variants in a Nationwide Cohort of Patients with Pheochromocytoma and Paraganglioma
title_full Novel Gene Variants in a Nationwide Cohort of Patients with Pheochromocytoma and Paraganglioma
title_fullStr Novel Gene Variants in a Nationwide Cohort of Patients with Pheochromocytoma and Paraganglioma
title_full_unstemmed Novel Gene Variants in a Nationwide Cohort of Patients with Pheochromocytoma and Paraganglioma
title_sort Novel Gene Variants in a Nationwide Cohort of Patients with Pheochromocytoma and Paraganglioma
dc.creator.none.fl_str_mv Martínez de la Piscina Martín, Idoia
Diego Perojo, Estrella
Baquero, Candela
Fernández Rubio, Elsa
Menéndez, Edelmiro
Moure, María Dolores
Ruiz de Azua, Teresa
Castaño González, Luis Antonio
Valdés, Nuria
author Martínez de la Piscina Martín, Idoia
author_facet Martínez de la Piscina Martín, Idoia
Diego Perojo, Estrella
Baquero, Candela
Fernández Rubio, Elsa
Menéndez, Edelmiro
Moure, María Dolores
Ruiz de Azua, Teresa
Castaño González, Luis Antonio
Valdés, Nuria
author_role author
author2 Diego Perojo, Estrella
Baquero, Candela
Fernández Rubio, Elsa
Menéndez, Edelmiro
Moure, María Dolores
Ruiz de Azua, Teresa
Castaño González, Luis Antonio
Valdés, Nuria
author2_role author
author
author
author
author
author
author
author
dc.subject.none.fl_str_mv pheochromocytoma
paraganglioma
genetics
germline
topic pheochromocytoma
paraganglioma
genetics
germline
description Pheochromocytomas (PCCs) and paragangliomas (PGLs), denoted PPGLs, are rare neuroendocrine tumours and are highly heterogeneous. The phenotype–genotype correlation is poor; therefore, additional studies are needed to understand their pathogenesis. We describe the clinical characteristics of 63 patients with PPGLs and perform a genetic study. Genetic screening was performed via a targeted gene panel, and clinical variables were compared among patients with a positive molecular diagnosis and negative ones in both PCC and PGL cohorts. The mean age of patients with PCC was 50.0, and the mean age of those with PGL was 54.0. Disease-causing germline variants were identified in 16 individuals (25.4%), twelve and five patients with PCC and PGL, respectively. Genetically positive patients were younger at diagnosis in both cohorts. Variants in genes associated with either isolated PPGLs or syndromic forms of the disease were detected in a cohort of PPGLs. We have identified novel variants in known genes and set the importance of genetic screening to every patient with PPGLs, with a special focus on the young. A longer follow up of patients with variants in genes associated with syndromic forms is of clinical value.
publishDate 2024
dc.date.none.fl_str_mv 2024
2024
2024
2024
dc.type.none.fl_str_mv info:eu-repo/semantics/article
format article
dc.identifier.none.fl_str_mv http://hdl.handle.net/10810/70634
url http://hdl.handle.net/10810/70634
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv https://www.mdpi.com/1422-0067/25/22/12056
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
http://creativecommons.org/licenses/by/4.0/es/
eu_rights_str_mv openAccess
rights_invalid_str_mv http://creativecommons.org/licenses/by/4.0/es/
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv MDPI
publisher.none.fl_str_mv MDPI
dc.source.none.fl_str_mv reponame:Addi. Archivo Digital para la Docencia y la Investigación
instname:Universidad del País Vasco
instname_str Universidad del País Vasco
reponame_str Addi. Archivo Digital para la Docencia y la Investigación
collection Addi. Archivo Digital para la Docencia y la Investigación
repository.name.fl_str_mv
repository.mail.fl_str_mv
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