Characterization of the Population with BRAF V600 Mutation in Patients with Metastatic Cutaneous Melanoma in a Tertiary Center
Autor(a) principal: | |
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Data de Publicação: | 2020 |
Outros Autores: | , , , , |
Tipo de documento: | Artigo |
Idioma: | por |
Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
Texto Completo: | https://doi.org/10.29021/spdv.78.1.1150 |
Resumo: | Introduction: Although corresponding to only 5% of cutaneous neoplasms, melanoma is the tumor of this organ with the highest mortality rate. The constant development of new drugs, particularly those targeting the B-Raf protein, has significantly increased overall patient survival. To date, several studies have evaluated the clinical-pathological correlations with this mutation. However, no study has been published regarding the Portuguese population. Material & Methods: In the present study, the authors investigated the existence of clinico-pathological correlations with the presence or absence of BRAF mutation in a population of patients with metastatic cutaneous melanoma, in order to identify prognostic factors related to this cell signaling pathway. Results: A total of 197 melanoma patients’ clinical processes with BRAF mutation tested, observed at the IPOLFG Dermatology Service between January 2012 and December 2016, were evaluated. The BRAF mutation was documented in 46.7% (n=92) of the patients, 60% of which (n=56) were male. Fifty-two percent (n=48) of the primary tumors were located in the trunk, suggesting the association of the mutation with intermittent sun exposure. In 40% of patients (n=79) metastasis occurred at multiple anatomical sites. The percentage of patients with metastasis in a single anatomical site was 60% (n = 118), with the most frequently involved sites being locoregional ganglion chains (36%, n=43) and lung (26.6%, n=25). Conclusion: The results presented did not reveal differences in the studied Portuguese population, in agreement with those documented for other populations and described in the literature. |
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Characterization of the Population with BRAF V600 Mutation in Patients with Metastatic Cutaneous Melanoma in a Tertiary CenterCaracterização da População com Mutação BRAF V600 nos Doentes com Melanoma Cutâneo Metastizado num Centro TerciárioMelanoma/geneticsMutationProto-Oncogene Proteins B-rafSkin Neoplasms/geneticsMelanoma/genéticaMutaçãoNeoplasias da PeleProteínas Proto-Oncogénicas B-rafIntroduction: Although corresponding to only 5% of cutaneous neoplasms, melanoma is the tumor of this organ with the highest mortality rate. The constant development of new drugs, particularly those targeting the B-Raf protein, has significantly increased overall patient survival. To date, several studies have evaluated the clinical-pathological correlations with this mutation. However, no study has been published regarding the Portuguese population. Material & Methods: In the present study, the authors investigated the existence of clinico-pathological correlations with the presence or absence of BRAF mutation in a population of patients with metastatic cutaneous melanoma, in order to identify prognostic factors related to this cell signaling pathway. Results: A total of 197 melanoma patients’ clinical processes with BRAF mutation tested, observed at the IPOLFG Dermatology Service between January 2012 and December 2016, were evaluated. The BRAF mutation was documented in 46.7% (n=92) of the patients, 60% of which (n=56) were male. Fifty-two percent (n=48) of the primary tumors were located in the trunk, suggesting the association of the mutation with intermittent sun exposure. In 40% of patients (n=79) metastasis occurred at multiple anatomical sites. The percentage of patients with metastasis in a single anatomical site was 60% (n = 118), with the most frequently involved sites being locoregional ganglion chains (36%, n=43) and lung (26.6%, n=25). Conclusion: The results presented did not reveal differences in the studied Portuguese population, in agreement with those documented for other populations and described in the literature.Introdução: O melanoma, ainda que represente apenas 5% das neoplasias cutâneas, é o tumor desse órgão com maior taxa de mortalidade. O constante desenvolvimento de novos fármacos, nomeadamente aqueles que têm como alvo terapêutico a proteína B-Raf, aumentou significativamente a sobrevida global dos doentes. Até à data, vários estudos avaliaram as correlações clínico-patológicas com esta mutação; no entanto, não há publicado nenhum estudo referente à população portuguesa. Material e Métodos: No presente trabalho, os autores investigaram a existência de correlações clínico-patológicas com a presença ou ausência de mutação BRAF, numa população de doentes com melanoma cutâneo metastizado, com vista à identificação de fatores de prognóstico relacionados com esta via de sinalização celular no melanoma. Resultados: Foram avaliados os processos de 197 doentes com melanoma metastizado e mutação BRAF testada, observados no Serviço de Dermatologia do IPOLFG entre janeiro de 2012 e dezembro de 2016. A mutação BRAF foi documentada em 46,7% (n=92) dos doentes, 60% dos quais (n=56) eram do sexo masculino. Cinquenta e dois por cento (n=48) dos tumores primários estavam localizados no tronco, o que sugere a associação da mutação com a exposição solar intermitente. Em 40% dos doentes (n=79) a metastização ocorreu em múltiplos locais anatómicos. A percentagem de doentes com metastização num único local anatómico foi de 60% (n=118), sendo os locais mais frequentemente envolvidos as cadeias ganglionares locorregionais (36%, n=43) e o pulmão (26,6%, n=25). Conclusão: Os resultados apresentados não revelaram diferenças na população portuguesa estudada, estando de acordo com aqueles documentados para outras populações e descritos na literatura.Sociedade Portuguesa de Dermatologia e Venereologia2020-05-06T00:00:00Zjournal articleinfo:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfhttps://doi.org/10.29021/spdv.78.1.1150oai:ojs.revista.spdv.com.pt:article/1150Journal of the Portuguese Society of Dermatology and Venereology; Vol 78 No 1 (2020): January - March; 41-47Revista da Sociedade Portuguesa de Dermatologia e Venereologia; v. 78 n. 1 (2020): Janeiro - Março; 41-472182-24092182-2395reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAPporhttps://revista.spdv.com.pt/index.php/spdv/article/view/1150https://doi.org/10.29021/spdv.78.1.1150https://revista.spdv.com.pt/index.php/spdv/article/view/1150/821Mendonça-Sanches, MariaApalhão, MiguelVale-Fernandes, PedroRito, MiguelCosta-Rosa, JoaninhaMoura, Cecíliainfo:eu-repo/semantics/openAccess2022-10-06T12:35:13Zoai:ojs.revista.spdv.com.pt:article/1150Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T16:11:12.234311Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse |
dc.title.none.fl_str_mv |
Characterization of the Population with BRAF V600 Mutation in Patients with Metastatic Cutaneous Melanoma in a Tertiary Center Caracterização da População com Mutação BRAF V600 nos Doentes com Melanoma Cutâneo Metastizado num Centro Terciário |
title |
Characterization of the Population with BRAF V600 Mutation in Patients with Metastatic Cutaneous Melanoma in a Tertiary Center |
spellingShingle |
Characterization of the Population with BRAF V600 Mutation in Patients with Metastatic Cutaneous Melanoma in a Tertiary Center Mendonça-Sanches, Maria Melanoma/genetics Mutation Proto-Oncogene Proteins B-raf Skin Neoplasms/genetics Melanoma/genética Mutação Neoplasias da Pele Proteínas Proto-Oncogénicas B-raf |
title_short |
Characterization of the Population with BRAF V600 Mutation in Patients with Metastatic Cutaneous Melanoma in a Tertiary Center |
title_full |
Characterization of the Population with BRAF V600 Mutation in Patients with Metastatic Cutaneous Melanoma in a Tertiary Center |
title_fullStr |
Characterization of the Population with BRAF V600 Mutation in Patients with Metastatic Cutaneous Melanoma in a Tertiary Center |
title_full_unstemmed |
Characterization of the Population with BRAF V600 Mutation in Patients with Metastatic Cutaneous Melanoma in a Tertiary Center |
title_sort |
Characterization of the Population with BRAF V600 Mutation in Patients with Metastatic Cutaneous Melanoma in a Tertiary Center |
author |
Mendonça-Sanches, Maria |
author_facet |
Mendonça-Sanches, Maria Apalhão, Miguel Vale-Fernandes, Pedro Rito, Miguel Costa-Rosa, Joaninha Moura, Cecília |
author_role |
author |
author2 |
Apalhão, Miguel Vale-Fernandes, Pedro Rito, Miguel Costa-Rosa, Joaninha Moura, Cecília |
author2_role |
author author author author author |
dc.contributor.author.fl_str_mv |
Mendonça-Sanches, Maria Apalhão, Miguel Vale-Fernandes, Pedro Rito, Miguel Costa-Rosa, Joaninha Moura, Cecília |
dc.subject.por.fl_str_mv |
Melanoma/genetics Mutation Proto-Oncogene Proteins B-raf Skin Neoplasms/genetics Melanoma/genética Mutação Neoplasias da Pele Proteínas Proto-Oncogénicas B-raf |
topic |
Melanoma/genetics Mutation Proto-Oncogene Proteins B-raf Skin Neoplasms/genetics Melanoma/genética Mutação Neoplasias da Pele Proteínas Proto-Oncogénicas B-raf |
description |
Introduction: Although corresponding to only 5% of cutaneous neoplasms, melanoma is the tumor of this organ with the highest mortality rate. The constant development of new drugs, particularly those targeting the B-Raf protein, has significantly increased overall patient survival. To date, several studies have evaluated the clinical-pathological correlations with this mutation. However, no study has been published regarding the Portuguese population. Material & Methods: In the present study, the authors investigated the existence of clinico-pathological correlations with the presence or absence of BRAF mutation in a population of patients with metastatic cutaneous melanoma, in order to identify prognostic factors related to this cell signaling pathway. Results: A total of 197 melanoma patients’ clinical processes with BRAF mutation tested, observed at the IPOLFG Dermatology Service between January 2012 and December 2016, were evaluated. The BRAF mutation was documented in 46.7% (n=92) of the patients, 60% of which (n=56) were male. Fifty-two percent (n=48) of the primary tumors were located in the trunk, suggesting the association of the mutation with intermittent sun exposure. In 40% of patients (n=79) metastasis occurred at multiple anatomical sites. The percentage of patients with metastasis in a single anatomical site was 60% (n = 118), with the most frequently involved sites being locoregional ganglion chains (36%, n=43) and lung (26.6%, n=25). Conclusion: The results presented did not reveal differences in the studied Portuguese population, in agreement with those documented for other populations and described in the literature. |
publishDate |
2020 |
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2020-05-06T00:00:00Z |
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journal article info:eu-repo/semantics/article |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
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article |
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publishedVersion |
dc.identifier.uri.fl_str_mv |
https://doi.org/10.29021/spdv.78.1.1150 oai:ojs.revista.spdv.com.pt:article/1150 |
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https://doi.org/10.29021/spdv.78.1.1150 |
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oai:ojs.revista.spdv.com.pt:article/1150 |
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por |
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dc.relation.none.fl_str_mv |
https://revista.spdv.com.pt/index.php/spdv/article/view/1150 https://doi.org/10.29021/spdv.78.1.1150 https://revista.spdv.com.pt/index.php/spdv/article/view/1150/821 |
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info:eu-repo/semantics/openAccess |
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openAccess |
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application/pdf |
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Sociedade Portuguesa de Dermatologia e Venereologia |
publisher.none.fl_str_mv |
Sociedade Portuguesa de Dermatologia e Venereologia |
dc.source.none.fl_str_mv |
Journal of the Portuguese Society of Dermatology and Venereology; Vol 78 No 1 (2020): January - March; 41-47 Revista da Sociedade Portuguesa de Dermatologia e Venereologia; v. 78 n. 1 (2020): Janeiro - Março; 41-47 2182-2409 2182-2395 reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação instacron:RCAAP |
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Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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RCAAP |
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RCAAP |
reponame_str |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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