Pheochromocytoma and paraganglioma: implications of germline mutation investigation for treatment, screening, and surveillance
Autor(a) principal: | |
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Data de Publicação: | 2019 |
Outros Autores: | , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Arquivos de Endocrinologia e Metabolismo (Online) |
Texto Completo: | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2359-39972019000700369 |
Resumo: | ABSTRACT Objective Paraganglioma (PGL) and pheochromocytoma (PCC) are rare neuroendocrine tumors that were considered to be predominantly sporadic. However, with the identification of novel susceptibility genes over the last decade, it is currently estimated that up to 40% of cases can occur in the context of a hereditary syndrome. We aimed to characterize PGL/PCC families to exemplify the different scenarios in which hereditary syndromes can be suspected and to emphasize the importance for patients and their families of making an opportune genetic diagnosis. Materials and methods Retrospective analysis of patients diagnosed with PGL/PCC. Germline mutations were studied using next-generation sequencing panels including SDHA, SDHB, SDHC and SDHD. Clinical data were collected from clinical records, and all patients received genetic counseling. Results We describe 4 families with PGL/PCC and germline mutations in SDH complex genes. 2 families have SDHB mutations and 2 SDHD mutations. The clinical presentation of the patients and their families was heterogeneous, with some being atypical according to the literature. Conclusions PGL/PCC are more commonly associated with a germline mutation than any other cancer type, therefore, all individuals with these types of tumors should undergo genetic risk evaluation. NGS multigene panel testing is a cost-effective approach given the overlapping phenotypes. Individuals with germline mutations associated with PGL/PCC should undergo lifelong clinical, biochemical and imaging surveillance and their families should undergo genetic counseling. For all these reasons, it is critical that all medical staff can suspect and diagnose these inherited cancer predisposition syndromes. |
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Pheochromocytoma and paraganglioma: implications of germline mutation investigation for treatment, screening, and surveillancePheochromocytomaparagangliomagermline mutationsuccinate dehydrogenase complexscreeningABSTRACT Objective Paraganglioma (PGL) and pheochromocytoma (PCC) are rare neuroendocrine tumors that were considered to be predominantly sporadic. However, with the identification of novel susceptibility genes over the last decade, it is currently estimated that up to 40% of cases can occur in the context of a hereditary syndrome. We aimed to characterize PGL/PCC families to exemplify the different scenarios in which hereditary syndromes can be suspected and to emphasize the importance for patients and their families of making an opportune genetic diagnosis. Materials and methods Retrospective analysis of patients diagnosed with PGL/PCC. Germline mutations were studied using next-generation sequencing panels including SDHA, SDHB, SDHC and SDHD. Clinical data were collected from clinical records, and all patients received genetic counseling. Results We describe 4 families with PGL/PCC and germline mutations in SDH complex genes. 2 families have SDHB mutations and 2 SDHD mutations. The clinical presentation of the patients and their families was heterogeneous, with some being atypical according to the literature. Conclusions PGL/PCC are more commonly associated with a germline mutation than any other cancer type, therefore, all individuals with these types of tumors should undergo genetic risk evaluation. NGS multigene panel testing is a cost-effective approach given the overlapping phenotypes. Individuals with germline mutations associated with PGL/PCC should undergo lifelong clinical, biochemical and imaging surveillance and their families should undergo genetic counseling. For all these reasons, it is critical that all medical staff can suspect and diagnose these inherited cancer predisposition syndromes.Sociedade Brasileira de Endocrinologia e Metabologia2019-08-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S2359-39972019000700369Archives of Endocrinology and Metabolism v.63 n.4 2019reponame:Arquivos de Endocrinologia e Metabolismo (Online)instname:Sociedade Brasileira de Endocrinologia e Metabologia (SBEM)instacron:SBEM10.20945/2359-3997000000145info:eu-repo/semantics/openAccessGómez,Ana MilenaSoares,Diogo CordeiroCosta,Alexandre André BalieiroPereira,Daniele PaixãoAchatz,Maria IsabelFormiga,Maria Nirvanaeng2019-08-19T00:00:00Zoai:scielo:S2359-39972019000700369Revistahttps://www.aem-sbem.com/https://old.scielo.br/oai/scielo-oai.php||aem.editorial.office@endocrino.org.br2359-42922359-3997opendoar:2019-08-19T00:00Arquivos de Endocrinologia e Metabolismo (Online) - Sociedade Brasileira de Endocrinologia e Metabologia (SBEM)false |
dc.title.none.fl_str_mv |
Pheochromocytoma and paraganglioma: implications of germline mutation investigation for treatment, screening, and surveillance |
title |
Pheochromocytoma and paraganglioma: implications of germline mutation investigation for treatment, screening, and surveillance |
spellingShingle |
Pheochromocytoma and paraganglioma: implications of germline mutation investigation for treatment, screening, and surveillance Gómez,Ana Milena Pheochromocytoma paraganglioma germline mutation succinate dehydrogenase complex screening |
title_short |
Pheochromocytoma and paraganglioma: implications of germline mutation investigation for treatment, screening, and surveillance |
title_full |
Pheochromocytoma and paraganglioma: implications of germline mutation investigation for treatment, screening, and surveillance |
title_fullStr |
Pheochromocytoma and paraganglioma: implications of germline mutation investigation for treatment, screening, and surveillance |
title_full_unstemmed |
Pheochromocytoma and paraganglioma: implications of germline mutation investigation for treatment, screening, and surveillance |
title_sort |
Pheochromocytoma and paraganglioma: implications of germline mutation investigation for treatment, screening, and surveillance |
author |
Gómez,Ana Milena |
author_facet |
Gómez,Ana Milena Soares,Diogo Cordeiro Costa,Alexandre André Balieiro Pereira,Daniele Paixão Achatz,Maria Isabel Formiga,Maria Nirvana |
author_role |
author |
author2 |
Soares,Diogo Cordeiro Costa,Alexandre André Balieiro Pereira,Daniele Paixão Achatz,Maria Isabel Formiga,Maria Nirvana |
author2_role |
author author author author author |
dc.contributor.author.fl_str_mv |
Gómez,Ana Milena Soares,Diogo Cordeiro Costa,Alexandre André Balieiro Pereira,Daniele Paixão Achatz,Maria Isabel Formiga,Maria Nirvana |
dc.subject.por.fl_str_mv |
Pheochromocytoma paraganglioma germline mutation succinate dehydrogenase complex screening |
topic |
Pheochromocytoma paraganglioma germline mutation succinate dehydrogenase complex screening |
description |
ABSTRACT Objective Paraganglioma (PGL) and pheochromocytoma (PCC) are rare neuroendocrine tumors that were considered to be predominantly sporadic. However, with the identification of novel susceptibility genes over the last decade, it is currently estimated that up to 40% of cases can occur in the context of a hereditary syndrome. We aimed to characterize PGL/PCC families to exemplify the different scenarios in which hereditary syndromes can be suspected and to emphasize the importance for patients and their families of making an opportune genetic diagnosis. Materials and methods Retrospective analysis of patients diagnosed with PGL/PCC. Germline mutations were studied using next-generation sequencing panels including SDHA, SDHB, SDHC and SDHD. Clinical data were collected from clinical records, and all patients received genetic counseling. Results We describe 4 families with PGL/PCC and germline mutations in SDH complex genes. 2 families have SDHB mutations and 2 SDHD mutations. The clinical presentation of the patients and their families was heterogeneous, with some being atypical according to the literature. Conclusions PGL/PCC are more commonly associated with a germline mutation than any other cancer type, therefore, all individuals with these types of tumors should undergo genetic risk evaluation. NGS multigene panel testing is a cost-effective approach given the overlapping phenotypes. Individuals with germline mutations associated with PGL/PCC should undergo lifelong clinical, biochemical and imaging surveillance and their families should undergo genetic counseling. For all these reasons, it is critical that all medical staff can suspect and diagnose these inherited cancer predisposition syndromes. |
publishDate |
2019 |
dc.date.none.fl_str_mv |
2019-08-01 |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2359-39972019000700369 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2359-39972019000700369 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
10.20945/2359-3997000000145 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
text/html |
dc.publisher.none.fl_str_mv |
Sociedade Brasileira de Endocrinologia e Metabologia |
publisher.none.fl_str_mv |
Sociedade Brasileira de Endocrinologia e Metabologia |
dc.source.none.fl_str_mv |
Archives of Endocrinology and Metabolism v.63 n.4 2019 reponame:Arquivos de Endocrinologia e Metabolismo (Online) instname:Sociedade Brasileira de Endocrinologia e Metabologia (SBEM) instacron:SBEM |
instname_str |
Sociedade Brasileira de Endocrinologia e Metabologia (SBEM) |
instacron_str |
SBEM |
institution |
SBEM |
reponame_str |
Arquivos de Endocrinologia e Metabolismo (Online) |
collection |
Arquivos de Endocrinologia e Metabolismo (Online) |
repository.name.fl_str_mv |
Arquivos de Endocrinologia e Metabolismo (Online) - Sociedade Brasileira de Endocrinologia e Metabologia (SBEM) |
repository.mail.fl_str_mv |
||aem.editorial.office@endocrino.org.br |
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1752122516433797120 |