PIK3CA mutations are frequent in esophageal squamous cell carcinoma associated with chagasic megaesophagus and are associated with a worse patient outcome
Autor(a) principal: | |
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Data de Publicação: | 2018 |
Outros Autores: | , , , , , , , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Institucional da UNESP |
Texto Completo: | http://dx.doi.org/10.1186/s13027-018-0216-3 http://hdl.handle.net/11449/188555 |
Resumo: | Background: Chronic diseases such as chagasic megaesophagus (secondary to Chagas' disease) have been suggested as etiological factors for esophageal squamous cell carcinoma; however, the molecular mechanisms involved are poorly understood. Objective: We analyzed hotspot PIK3CA gene mutations in a series of esophageal squamous cell carcinomas associated or not with chagasic megaesophagus, as well as, in chagasic megaesophagus biopsies. We also checked for correlations between the presence of PIK3CA mutations with patients' clinical and pathological features. Methods: The study included three different groups of patients: i) 23 patients with chagasic megaesophagus associated with esophageal squamous cell carcinoma (CM/ESCC); ii) 38 patients with esophageal squamous cell carcinoma not associated with chagasic megaesophagus (ESCC); and iii) 28 patients with chagasic megaesophagus without esophageal squamous cell carcinoma (CM). PIK3CA hotspot mutations in exons 9 and 20 were evaluated by PCR followed by direct sequencing technique. Results: PIK3CA mutations were identified in 21.7% (5 out of 23) of CM/ESCC cases, in 10.5% (4 out of 38) of ESCC and in only 3.6% (1 case out of 28) of CM cases. In the CM/ESCC group, PIK3CA mutations were significantly associated with lower survival (mean 5 months), when compared to wild-type patients (mean 2.0 years). No other significant associations were observed between PIK3CA mutations and patients' clinical features or TP53 mutation profile. Conclusion: This is the first report on the presence of PIK3CA mutations in esophageal cancer associated with chagasic megaesophagus. The detection of PIK3CA mutations in benign chagasic megaesophagus lesions suggests their putative role in esophageal squamous cell carcinoma development and opens new opportunities for targeted-therapies for these diseases. |
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PIK3CA mutations are frequent in esophageal squamous cell carcinoma associated with chagasic megaesophagus and are associated with a worse patient outcomeAchalasiaChagasic megaesophagusEsophageal cancerEsophageal squamous cell carcinomaMutationPIK3CATrypanosoma cruziBackground: Chronic diseases such as chagasic megaesophagus (secondary to Chagas' disease) have been suggested as etiological factors for esophageal squamous cell carcinoma; however, the molecular mechanisms involved are poorly understood. Objective: We analyzed hotspot PIK3CA gene mutations in a series of esophageal squamous cell carcinomas associated or not with chagasic megaesophagus, as well as, in chagasic megaesophagus biopsies. We also checked for correlations between the presence of PIK3CA mutations with patients' clinical and pathological features. Methods: The study included three different groups of patients: i) 23 patients with chagasic megaesophagus associated with esophageal squamous cell carcinoma (CM/ESCC); ii) 38 patients with esophageal squamous cell carcinoma not associated with chagasic megaesophagus (ESCC); and iii) 28 patients with chagasic megaesophagus without esophageal squamous cell carcinoma (CM). PIK3CA hotspot mutations in exons 9 and 20 were evaluated by PCR followed by direct sequencing technique. Results: PIK3CA mutations were identified in 21.7% (5 out of 23) of CM/ESCC cases, in 10.5% (4 out of 38) of ESCC and in only 3.6% (1 case out of 28) of CM cases. In the CM/ESCC group, PIK3CA mutations were significantly associated with lower survival (mean 5 months), when compared to wild-type patients (mean 2.0 years). No other significant associations were observed between PIK3CA mutations and patients' clinical features or TP53 mutation profile. Conclusion: This is the first report on the presence of PIK3CA mutations in esophageal cancer associated with chagasic megaesophagus. The detection of PIK3CA mutations in benign chagasic megaesophagus lesions suggests their putative role in esophageal squamous cell carcinoma development and opens new opportunities for targeted-therapies for these diseases.Molecular Oncology Research Center Barretos Cancer Hospital, Rua Antenor Duarte Villela, 1331Department of Digestive Surgery Barretos Cancer HospitalDepartment of Pathology Diagnosis of Biopsies and Surgical Specimens Barretos Cancer HospitalDepartment of Digestive Surgery and Pathology Medical School UFTM Federal University of Triangulo MineiroDepartament of Gastroenterology Surgery and Pathology Medical School UNESP São Paulo State UniversityDepartment of Endoscopy Barretos Cancer HospitalDepartment of Radiology and Oncology Medical School USP - University of São PauloMedical Laboratory of Medical Investigation (LIM) 14 Department of Pathology Medical School USP - University of São PauloLife and Health Sciences Research Institute (ICVS) School of Health Sciences University of MinhoICVS/3B's - PT Government Assoc. Lab.Departament of Gastroenterology Surgery and Pathology Medical School UNESP São Paulo State UniversityBarretos Cancer HospitalFederal University of Triangulo MineiroUniversidade Estadual Paulista (Unesp)Universidade de São Paulo (USP)University of MinhoICVS/3B's - PT Government Assoc. Lab.Munari, Fernanda FrancoCruvinel-Carloni, AdrianaLacerda, Croider FrancoDe Oliveira, Antônio Talvane TorresScapulatempo-Neto, CristovamDa Silva, Sandra Regina MoriniCrema, EduardoAdad, Sheila JorgeRodrigues, Maria Aparecida Marchesan [UNESP]Henry, Maria Aparecida Coelho Arruda [UNESP]Guimarães, Denise PeixotoLongatto-Filho, AdhemarReis, Rui Manuel2019-10-06T16:11:55Z2019-10-06T16:11:55Z2018-12-29info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articlehttp://dx.doi.org/10.1186/s13027-018-0216-3Infectious Agents and Cancer, v. 13, n. 1, 2018.1750-9378http://hdl.handle.net/11449/18855510.1186/s13027-018-0216-32-s2.0-85059272470Scopusreponame:Repositório Institucional da UNESPinstname:Universidade Estadual Paulista (UNESP)instacron:UNESPengInfectious Agents and Cancerinfo:eu-repo/semantics/openAccess2024-09-03T13:14:32Zoai:repositorio.unesp.br:11449/188555Repositório InstitucionalPUBhttp://repositorio.unesp.br/oai/requestrepositoriounesp@unesp.bropendoar:29462024-09-03T13:14:32Repositório Institucional da UNESP - Universidade Estadual Paulista (UNESP)false |
dc.title.none.fl_str_mv |
PIK3CA mutations are frequent in esophageal squamous cell carcinoma associated with chagasic megaesophagus and are associated with a worse patient outcome |
title |
PIK3CA mutations are frequent in esophageal squamous cell carcinoma associated with chagasic megaesophagus and are associated with a worse patient outcome |
spellingShingle |
PIK3CA mutations are frequent in esophageal squamous cell carcinoma associated with chagasic megaesophagus and are associated with a worse patient outcome Munari, Fernanda Franco Achalasia Chagasic megaesophagus Esophageal cancer Esophageal squamous cell carcinoma Mutation PIK3CA Trypanosoma cruzi |
title_short |
PIK3CA mutations are frequent in esophageal squamous cell carcinoma associated with chagasic megaesophagus and are associated with a worse patient outcome |
title_full |
PIK3CA mutations are frequent in esophageal squamous cell carcinoma associated with chagasic megaesophagus and are associated with a worse patient outcome |
title_fullStr |
PIK3CA mutations are frequent in esophageal squamous cell carcinoma associated with chagasic megaesophagus and are associated with a worse patient outcome |
title_full_unstemmed |
PIK3CA mutations are frequent in esophageal squamous cell carcinoma associated with chagasic megaesophagus and are associated with a worse patient outcome |
title_sort |
PIK3CA mutations are frequent in esophageal squamous cell carcinoma associated with chagasic megaesophagus and are associated with a worse patient outcome |
author |
Munari, Fernanda Franco |
author_facet |
Munari, Fernanda Franco Cruvinel-Carloni, Adriana Lacerda, Croider Franco De Oliveira, Antônio Talvane Torres Scapulatempo-Neto, Cristovam Da Silva, Sandra Regina Morini Crema, Eduardo Adad, Sheila Jorge Rodrigues, Maria Aparecida Marchesan [UNESP] Henry, Maria Aparecida Coelho Arruda [UNESP] Guimarães, Denise Peixoto Longatto-Filho, Adhemar Reis, Rui Manuel |
author_role |
author |
author2 |
Cruvinel-Carloni, Adriana Lacerda, Croider Franco De Oliveira, Antônio Talvane Torres Scapulatempo-Neto, Cristovam Da Silva, Sandra Regina Morini Crema, Eduardo Adad, Sheila Jorge Rodrigues, Maria Aparecida Marchesan [UNESP] Henry, Maria Aparecida Coelho Arruda [UNESP] Guimarães, Denise Peixoto Longatto-Filho, Adhemar Reis, Rui Manuel |
author2_role |
author author author author author author author author author author author author |
dc.contributor.none.fl_str_mv |
Barretos Cancer Hospital Federal University of Triangulo Mineiro Universidade Estadual Paulista (Unesp) Universidade de São Paulo (USP) University of Minho ICVS/3B's - PT Government Assoc. Lab. |
dc.contributor.author.fl_str_mv |
Munari, Fernanda Franco Cruvinel-Carloni, Adriana Lacerda, Croider Franco De Oliveira, Antônio Talvane Torres Scapulatempo-Neto, Cristovam Da Silva, Sandra Regina Morini Crema, Eduardo Adad, Sheila Jorge Rodrigues, Maria Aparecida Marchesan [UNESP] Henry, Maria Aparecida Coelho Arruda [UNESP] Guimarães, Denise Peixoto Longatto-Filho, Adhemar Reis, Rui Manuel |
dc.subject.por.fl_str_mv |
Achalasia Chagasic megaesophagus Esophageal cancer Esophageal squamous cell carcinoma Mutation PIK3CA Trypanosoma cruzi |
topic |
Achalasia Chagasic megaesophagus Esophageal cancer Esophageal squamous cell carcinoma Mutation PIK3CA Trypanosoma cruzi |
description |
Background: Chronic diseases such as chagasic megaesophagus (secondary to Chagas' disease) have been suggested as etiological factors for esophageal squamous cell carcinoma; however, the molecular mechanisms involved are poorly understood. Objective: We analyzed hotspot PIK3CA gene mutations in a series of esophageal squamous cell carcinomas associated or not with chagasic megaesophagus, as well as, in chagasic megaesophagus biopsies. We also checked for correlations between the presence of PIK3CA mutations with patients' clinical and pathological features. Methods: The study included three different groups of patients: i) 23 patients with chagasic megaesophagus associated with esophageal squamous cell carcinoma (CM/ESCC); ii) 38 patients with esophageal squamous cell carcinoma not associated with chagasic megaesophagus (ESCC); and iii) 28 patients with chagasic megaesophagus without esophageal squamous cell carcinoma (CM). PIK3CA hotspot mutations in exons 9 and 20 were evaluated by PCR followed by direct sequencing technique. Results: PIK3CA mutations were identified in 21.7% (5 out of 23) of CM/ESCC cases, in 10.5% (4 out of 38) of ESCC and in only 3.6% (1 case out of 28) of CM cases. In the CM/ESCC group, PIK3CA mutations were significantly associated with lower survival (mean 5 months), when compared to wild-type patients (mean 2.0 years). No other significant associations were observed between PIK3CA mutations and patients' clinical features or TP53 mutation profile. Conclusion: This is the first report on the presence of PIK3CA mutations in esophageal cancer associated with chagasic megaesophagus. The detection of PIK3CA mutations in benign chagasic megaesophagus lesions suggests their putative role in esophageal squamous cell carcinoma development and opens new opportunities for targeted-therapies for these diseases. |
publishDate |
2018 |
dc.date.none.fl_str_mv |
2018-12-29 2019-10-06T16:11:55Z 2019-10-06T16:11:55Z |
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://dx.doi.org/10.1186/s13027-018-0216-3 Infectious Agents and Cancer, v. 13, n. 1, 2018. 1750-9378 http://hdl.handle.net/11449/188555 10.1186/s13027-018-0216-3 2-s2.0-85059272470 |
url |
http://dx.doi.org/10.1186/s13027-018-0216-3 http://hdl.handle.net/11449/188555 |
identifier_str_mv |
Infectious Agents and Cancer, v. 13, n. 1, 2018. 1750-9378 10.1186/s13027-018-0216-3 2-s2.0-85059272470 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
Infectious Agents and Cancer |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.source.none.fl_str_mv |
Scopus reponame:Repositório Institucional da UNESP instname:Universidade Estadual Paulista (UNESP) instacron:UNESP |
instname_str |
Universidade Estadual Paulista (UNESP) |
instacron_str |
UNESP |
institution |
UNESP |
reponame_str |
Repositório Institucional da UNESP |
collection |
Repositório Institucional da UNESP |
repository.name.fl_str_mv |
Repositório Institucional da UNESP - Universidade Estadual Paulista (UNESP) |
repository.mail.fl_str_mv |
repositoriounesp@unesp.br |
_version_ |
1810021364496596992 |