Mutational profile of TP53 in esophageal squamous cell carcinoma associated with chagasic megaesophagus
Autor(a) principal: | |
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Data de Publicação: | 2017 |
Outros Autores: | , , , , , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
Texto Completo: | http://hdl.handle.net/1822/49937 |
Resumo: | Chaga's disease is an important communicable neglected disease that is gaining wider attention due to its increasing incidence worldwide. Achalasia due to chagasic megaesophagus (CM), a complication of this disease, is a known-yet, poorly understood-etiological factor for esophageal squamous cell carcinoma (ESCC) development. In this study, we aimed to perform the analysis of TP53 mutations in a series of Brazilian patients with ESCC that developed in the context CM (ESCC/CM), and to compare with the TP53 mutation profile of patients with benign CM and patients with nonchagasic ESCC. Additionally, we intended to correlate the TP53 mutation results with patient's clinical pathological features. By polymerase chain reaction (PCR) followed by direct sequencing of the hotspot regions of TP53 (exon 5 to 8), we found that TP53 mutations were present in 40.6% (13/32) of the ESCC/CM group, 45% (18/40) of the nonchagasic ESCC group, and in only 3% (1/33) of the benign CM group. Missense mutations were the most common in the three groups, yet, the type and mutated exon mutation varied significantly among the groups. Clinically, the groups exhibited distinct features, with both cancer groups (ESCC and ESCC/CM) been significantly associated higher consumption of alcohol and tobacco, older age, worse Karnofsky performance status, poor outcome than the patients with benign CM. No significant association was found between TP53 mutation profile and clinical-pathological features in any of the three groups. We describe first the time the analysis of TP53 mutations in ESCC that developed in the context of CM, and the observed high frequency of mutations, suggest that TP53 also plays an important role in the tumorigenic process of this unexplored etiological condition. |
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Mutational profile of TP53 in esophageal squamous cell carcinoma associated with chagasic megaesophagusEsophageal squamous cell carcinoma (ESCC)MegaesophagusMutationTP53Ciências Médicas::Medicina BásicaScience & TechnologyChaga's disease is an important communicable neglected disease that is gaining wider attention due to its increasing incidence worldwide. Achalasia due to chagasic megaesophagus (CM), a complication of this disease, is a known-yet, poorly understood-etiological factor for esophageal squamous cell carcinoma (ESCC) development. In this study, we aimed to perform the analysis of TP53 mutations in a series of Brazilian patients with ESCC that developed in the context CM (ESCC/CM), and to compare with the TP53 mutation profile of patients with benign CM and patients with nonchagasic ESCC. Additionally, we intended to correlate the TP53 mutation results with patient's clinical pathological features. By polymerase chain reaction (PCR) followed by direct sequencing of the hotspot regions of TP53 (exon 5 to 8), we found that TP53 mutations were present in 40.6% (13/32) of the ESCC/CM group, 45% (18/40) of the nonchagasic ESCC group, and in only 3% (1/33) of the benign CM group. Missense mutations were the most common in the three groups, yet, the type and mutated exon mutation varied significantly among the groups. Clinically, the groups exhibited distinct features, with both cancer groups (ESCC and ESCC/CM) been significantly associated higher consumption of alcohol and tobacco, older age, worse Karnofsky performance status, poor outcome than the patients with benign CM. No significant association was found between TP53 mutation profile and clinical-pathological features in any of the three groups. We describe first the time the analysis of TP53 mutations in ESCC that developed in the context of CM, and the observed high frequency of mutations, suggest that TP53 also plays an important role in the tumorigenic process of this unexplored etiological condition.Supported by Barretos Cancer Hospital internal research funds (PAIP). Rui M Reis is recipient of a CNPq Produtividade em Pesquisa grantinfo:eu-repo/semantics/publishedVersionOxford University PressUniversidade do MinhoLacerda, C. F.Cruvinel-Carloni, A.Oliveira, A. T. Torres deScapulatempo-Neto, CristovamLópez, R. V. M.Crema, E.Adad, S. J.Rodrigues, M. A. M.Henry, M. A. C. A.Guimarães, D. P.Reis, R. M.2017-042017-04-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/1822/49937engLacerda, C. F., Cruvinel-Carloni, A., de Oliveira, A. T., Scapulatempo-Neto, C., López, R. V. M., Crema, E., ... & Reis, R. M. (2017). Mutational profile of TP53 in esophageal squamous cell carcinoma associated with chagasic megaesophagus. Diseases of the Esophagus, 30(4), 1-91120-86941442-205010.1093/dote/dow04028375484https://academic.oup.com/dote/article-abstract/30/4/1/3091677?redirectedFrom=fulltextinfo:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-07-21T11:56:24Zoai:repositorium.sdum.uminho.pt:1822/49937Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T18:45:59.765044Repositório 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 |
Mutational profile of TP53 in esophageal squamous cell carcinoma associated with chagasic megaesophagus |
title |
Mutational profile of TP53 in esophageal squamous cell carcinoma associated with chagasic megaesophagus |
spellingShingle |
Mutational profile of TP53 in esophageal squamous cell carcinoma associated with chagasic megaesophagus Lacerda, C. F. Esophageal squamous cell carcinoma (ESCC) Megaesophagus Mutation TP53 Ciências Médicas::Medicina Básica Science & Technology |
title_short |
Mutational profile of TP53 in esophageal squamous cell carcinoma associated with chagasic megaesophagus |
title_full |
Mutational profile of TP53 in esophageal squamous cell carcinoma associated with chagasic megaesophagus |
title_fullStr |
Mutational profile of TP53 in esophageal squamous cell carcinoma associated with chagasic megaesophagus |
title_full_unstemmed |
Mutational profile of TP53 in esophageal squamous cell carcinoma associated with chagasic megaesophagus |
title_sort |
Mutational profile of TP53 in esophageal squamous cell carcinoma associated with chagasic megaesophagus |
author |
Lacerda, C. F. |
author_facet |
Lacerda, C. F. Cruvinel-Carloni, A. Oliveira, A. T. Torres de Scapulatempo-Neto, Cristovam López, R. V. M. Crema, E. Adad, S. J. Rodrigues, M. A. M. Henry, M. A. C. A. Guimarães, D. P. Reis, R. M. |
author_role |
author |
author2 |
Cruvinel-Carloni, A. Oliveira, A. T. Torres de Scapulatempo-Neto, Cristovam López, R. V. M. Crema, E. Adad, S. J. Rodrigues, M. A. M. Henry, M. A. C. A. Guimarães, D. P. Reis, R. M. |
author2_role |
author author author author author author author author author author |
dc.contributor.none.fl_str_mv |
Universidade do Minho |
dc.contributor.author.fl_str_mv |
Lacerda, C. F. Cruvinel-Carloni, A. Oliveira, A. T. Torres de Scapulatempo-Neto, Cristovam López, R. V. M. Crema, E. Adad, S. J. Rodrigues, M. A. M. Henry, M. A. C. A. Guimarães, D. P. Reis, R. M. |
dc.subject.por.fl_str_mv |
Esophageal squamous cell carcinoma (ESCC) Megaesophagus Mutation TP53 Ciências Médicas::Medicina Básica Science & Technology |
topic |
Esophageal squamous cell carcinoma (ESCC) Megaesophagus Mutation TP53 Ciências Médicas::Medicina Básica Science & Technology |
description |
Chaga's disease is an important communicable neglected disease that is gaining wider attention due to its increasing incidence worldwide. Achalasia due to chagasic megaesophagus (CM), a complication of this disease, is a known-yet, poorly understood-etiological factor for esophageal squamous cell carcinoma (ESCC) development. In this study, we aimed to perform the analysis of TP53 mutations in a series of Brazilian patients with ESCC that developed in the context CM (ESCC/CM), and to compare with the TP53 mutation profile of patients with benign CM and patients with nonchagasic ESCC. Additionally, we intended to correlate the TP53 mutation results with patient's clinical pathological features. By polymerase chain reaction (PCR) followed by direct sequencing of the hotspot regions of TP53 (exon 5 to 8), we found that TP53 mutations were present in 40.6% (13/32) of the ESCC/CM group, 45% (18/40) of the nonchagasic ESCC group, and in only 3% (1/33) of the benign CM group. Missense mutations were the most common in the three groups, yet, the type and mutated exon mutation varied significantly among the groups. Clinically, the groups exhibited distinct features, with both cancer groups (ESCC and ESCC/CM) been significantly associated higher consumption of alcohol and tobacco, older age, worse Karnofsky performance status, poor outcome than the patients with benign CM. No significant association was found between TP53 mutation profile and clinical-pathological features in any of the three groups. We describe first the time the analysis of TP53 mutations in ESCC that developed in the context of CM, and the observed high frequency of mutations, suggest that TP53 also plays an important role in the tumorigenic process of this unexplored etiological condition. |
publishDate |
2017 |
dc.date.none.fl_str_mv |
2017-04 2017-04-01T00:00:00Z |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://hdl.handle.net/1822/49937 |
url |
http://hdl.handle.net/1822/49937 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
Lacerda, C. F., Cruvinel-Carloni, A., de Oliveira, A. T., Scapulatempo-Neto, C., López, R. V. M., Crema, E., ... & Reis, R. M. (2017). Mutational profile of TP53 in esophageal squamous cell carcinoma associated with chagasic megaesophagus. Diseases of the Esophagus, 30(4), 1-9 1120-8694 1442-2050 10.1093/dote/dow040 28375484 https://academic.oup.com/dote/article-abstract/30/4/1/3091677?redirectedFrom=fulltext |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
application/pdf |
dc.publisher.none.fl_str_mv |
Oxford University Press |
publisher.none.fl_str_mv |
Oxford University Press |
dc.source.none.fl_str_mv |
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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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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