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SDHB exon 1 deletion: A recurrent germline mutation in Colombian patients with pheochromocytomas and paragangliomas

Pheochromocytomas (PCCs) and paragangliomas (PGLs) (known as PPGL in combination) are rare neuroendocrine tumors of the adrenal medulla and extra-adrenal ganglia. About 40% of the patients with PPGL have a hereditary predisposition. Here we present a case-series of 19 unrelated Colombian patients wi...

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Autores principales: Manotas, María Carolina, Rivera, Ana Lucía, Gómez, Ana Milena, Abisambra, Patricia, Guevara, Gonzalo, Medina, Vilma, Tapiero, Sandra, Huertas, Antonio, Riaño-Moreno, Julián, Mejía, Juan Carlos, Gonzalez-Clavijo, Angélica María, Tapiero-García, Mireya, Cuéllar-Cuéllar, Andrés Arturo, Fierro-Maya, Luis Felipe, Sanabria-Salas, María Carolina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9845289/
https://www.ncbi.nlm.nih.gov/pubmed/36685941
http://dx.doi.org/10.3389/fgene.2022.999329
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author Manotas, María Carolina
Rivera, Ana Lucía
Gómez, Ana Milena
Abisambra, Patricia
Guevara, Gonzalo
Medina, Vilma
Tapiero, Sandra
Huertas, Antonio
Riaño-Moreno, Julián
Mejía, Juan Carlos
Gonzalez-Clavijo, Angélica María
Tapiero-García, Mireya
Cuéllar-Cuéllar, Andrés Arturo
Fierro-Maya, Luis Felipe
Sanabria-Salas, María Carolina
author_facet Manotas, María Carolina
Rivera, Ana Lucía
Gómez, Ana Milena
Abisambra, Patricia
Guevara, Gonzalo
Medina, Vilma
Tapiero, Sandra
Huertas, Antonio
Riaño-Moreno, Julián
Mejía, Juan Carlos
Gonzalez-Clavijo, Angélica María
Tapiero-García, Mireya
Cuéllar-Cuéllar, Andrés Arturo
Fierro-Maya, Luis Felipe
Sanabria-Salas, María Carolina
author_sort Manotas, María Carolina
collection PubMed
description Pheochromocytomas (PCCs) and paragangliomas (PGLs) (known as PPGL in combination) are rare neuroendocrine tumors of the adrenal medulla and extra-adrenal ganglia. About 40% of the patients with PPGL have a hereditary predisposition. Here we present a case-series of 19 unrelated Colombian patients with a clinical diagnosis of PPGL tumors that underwent germline genetic testing as part of the Hereditary Cancer Program developed at the Instituto Nacional de Cancerología, Colombia (INC-C), the largest reference cancer center in the country. Ten of 19 patients (52.63%) were identified as carriers of a pathogenic/likely pathogenic (P/LP) germline variant in a known susceptibility gene. The majority of the P/LP variants were in the SDHB gene (9/10): one corresponded to a nonsense variant c.268C>T (p.Arg90*) and eight cases were found to be carriers of a recurrent CNV consisting of a large deletion of one copy of exon 1, explaining 42% (8/19) of all the affected cases. Only one additional case was found to be a carrier of a missense mutation in the VHL gene: c.355T>C (p.Phe119Leu). Our study highlights the major role of SDHB in Colombian patients with a clinical diagnosis of PGL/PCC tumors and supports the recommendation of including the analysis of large deletions/duplications of the SDHB gene as part of the genetic counselling to improve the detection rate of hereditary cases and their clinical care.
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spelling pubmed-98452892023-01-19 SDHB exon 1 deletion: A recurrent germline mutation in Colombian patients with pheochromocytomas and paragangliomas Manotas, María Carolina Rivera, Ana Lucía Gómez, Ana Milena Abisambra, Patricia Guevara, Gonzalo Medina, Vilma Tapiero, Sandra Huertas, Antonio Riaño-Moreno, Julián Mejía, Juan Carlos Gonzalez-Clavijo, Angélica María Tapiero-García, Mireya Cuéllar-Cuéllar, Andrés Arturo Fierro-Maya, Luis Felipe Sanabria-Salas, María Carolina Front Genet Genetics Pheochromocytomas (PCCs) and paragangliomas (PGLs) (known as PPGL in combination) are rare neuroendocrine tumors of the adrenal medulla and extra-adrenal ganglia. About 40% of the patients with PPGL have a hereditary predisposition. Here we present a case-series of 19 unrelated Colombian patients with a clinical diagnosis of PPGL tumors that underwent germline genetic testing as part of the Hereditary Cancer Program developed at the Instituto Nacional de Cancerología, Colombia (INC-C), the largest reference cancer center in the country. Ten of 19 patients (52.63%) were identified as carriers of a pathogenic/likely pathogenic (P/LP) germline variant in a known susceptibility gene. The majority of the P/LP variants were in the SDHB gene (9/10): one corresponded to a nonsense variant c.268C>T (p.Arg90*) and eight cases were found to be carriers of a recurrent CNV consisting of a large deletion of one copy of exon 1, explaining 42% (8/19) of all the affected cases. Only one additional case was found to be a carrier of a missense mutation in the VHL gene: c.355T>C (p.Phe119Leu). Our study highlights the major role of SDHB in Colombian patients with a clinical diagnosis of PGL/PCC tumors and supports the recommendation of including the analysis of large deletions/duplications of the SDHB gene as part of the genetic counselling to improve the detection rate of hereditary cases and their clinical care. Frontiers Media S.A. 2023-01-04 /pmc/articles/PMC9845289/ /pubmed/36685941 http://dx.doi.org/10.3389/fgene.2022.999329 Text en Copyright © 2023 Manotas, Rivera, Gómez, Abisambra, Guevara, Medina, Tapiero, Huertas, Riaño-Moreno, Mejía, Gonzalez-Clavijo, Tapiero-García, Cuéllar-Cuéllar, Fierro-Maya and Sanabria-Salas. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Genetics
Manotas, María Carolina
Rivera, Ana Lucía
Gómez, Ana Milena
Abisambra, Patricia
Guevara, Gonzalo
Medina, Vilma
Tapiero, Sandra
Huertas, Antonio
Riaño-Moreno, Julián
Mejía, Juan Carlos
Gonzalez-Clavijo, Angélica María
Tapiero-García, Mireya
Cuéllar-Cuéllar, Andrés Arturo
Fierro-Maya, Luis Felipe
Sanabria-Salas, María Carolina
SDHB exon 1 deletion: A recurrent germline mutation in Colombian patients with pheochromocytomas and paragangliomas
title SDHB exon 1 deletion: A recurrent germline mutation in Colombian patients with pheochromocytomas and paragangliomas
title_full SDHB exon 1 deletion: A recurrent germline mutation in Colombian patients with pheochromocytomas and paragangliomas
title_fullStr SDHB exon 1 deletion: A recurrent germline mutation in Colombian patients with pheochromocytomas and paragangliomas
title_full_unstemmed SDHB exon 1 deletion: A recurrent germline mutation in Colombian patients with pheochromocytomas and paragangliomas
title_short SDHB exon 1 deletion: A recurrent germline mutation in Colombian patients with pheochromocytomas and paragangliomas
title_sort sdhb exon 1 deletion: a recurrent germline mutation in colombian patients with pheochromocytomas and paragangliomas
topic Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9845289/
https://www.ncbi.nlm.nih.gov/pubmed/36685941
http://dx.doi.org/10.3389/fgene.2022.999329
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