PIK3CA mutations are frequent in esophageal squamous cell carcinoma associated with chagasic megaesophagus and are associated with a worse patient outcome

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dc.contributor.authorMunari, Fernanda Franco
dc.contributor.authorCruvinel-Carloni, Adriana
dc.contributor.authorLacerda, Croider Franco
dc.contributor.authorDe Oliveira, Antônio Talvane Torres
dc.contributor.authorScapulatempo-Neto, Cristovam
dc.contributor.authorDa Silva, Sandra Regina Morini
dc.contributor.authorCrema, Eduardo
dc.contributor.authorAdad, Sheila Jorge
dc.contributor.authorRodrigues, Maria Aparecida Marchesan [UNESP]
dc.contributor.authorHenry, Maria Aparecida Coelho Arruda [UNESP]
dc.contributor.authorGuimarães, Denise Peixoto
dc.contributor.authorLongatto-Filho, Adhemar
dc.contributor.authorReis, Rui Manuel
dc.contributor.institutionBarretos Cancer Hospital
dc.contributor.institutionFederal University of Triangulo Mineiro
dc.contributor.institutionUniversidade Estadual Paulista (Unesp)
dc.contributor.institutionUniversidade de São Paulo (USP)
dc.contributor.institutionUniversity of Minho
dc.contributor.institutionICVS/3B's - PT Government Assoc. Lab.
dc.date.accessioned2019-10-06T16:11:55Z
dc.date.available2019-10-06T16:11:55Z
dc.date.issued2018-12-29
dc.description.abstractBackground: 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.en
dc.description.affiliationMolecular Oncology Research Center Barretos Cancer Hospital, Rua Antenor Duarte Villela, 1331
dc.description.affiliationDepartment of Digestive Surgery Barretos Cancer Hospital
dc.description.affiliationDepartment of Pathology Diagnosis of Biopsies and Surgical Specimens Barretos Cancer Hospital
dc.description.affiliationDepartment of Digestive Surgery and Pathology Medical School UFTM Federal University of Triangulo Mineiro
dc.description.affiliationDepartament of Gastroenterology Surgery and Pathology Medical School UNESP São Paulo State University
dc.description.affiliationDepartment of Endoscopy Barretos Cancer Hospital
dc.description.affiliationDepartment of Radiology and Oncology Medical School USP - University of São Paulo
dc.description.affiliationMedical Laboratory of Medical Investigation (LIM) 14 Department of Pathology Medical School USP - University of São Paulo
dc.description.affiliationLife and Health Sciences Research Institute (ICVS) School of Health Sciences University of Minho
dc.description.affiliationICVS/3B's - PT Government Assoc. Lab.
dc.description.affiliationUnespDepartament of Gastroenterology Surgery and Pathology Medical School UNESP São Paulo State University
dc.identifierhttp://dx.doi.org/10.1186/s13027-018-0216-3
dc.identifier.citationInfectious Agents and Cancer, v. 13, n. 1, 2018.
dc.identifier.doi10.1186/s13027-018-0216-3
dc.identifier.issn1750-9378
dc.identifier.scopus2-s2.0-85059272470
dc.identifier.urihttp://hdl.handle.net/11449/188555
dc.language.isoeng
dc.relation.ispartofInfectious Agents and Cancer
dc.rights.accessRightsAcesso aberto
dc.sourceScopus
dc.subjectAchalasia
dc.subjectChagasic megaesophagus
dc.subjectEsophageal cancer
dc.subjectEsophageal squamous cell carcinoma
dc.subjectMutation
dc.subjectPIK3CA
dc.subjectTrypanosoma cruzi
dc.titlePIK3CA mutations are frequent in esophageal squamous cell carcinoma associated with chagasic megaesophagus and are associated with a worse patient outcomeen
dc.typeArtigo
unesp.author.orcid0000-0002-9639-7940[13]

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