Please use this identifier to cite or link to this item: http://hdl.handle.net/1822/59781

TitlePIK3CA mutations are frequent in esophageal squamous cell carcinoma associated with chagasic megaesophagus and are associated with a worse patient outcome
Author(s)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
Henry, Maria Aparecida Coelho Arruda
Guimarães, Denise Peixoto
Longatto, Adhemar
Reis, R. M.
KeywordsEsophageal cancer
Trypanosoma cruzition
Achalasia
Esophageal squamous cell carcinoma
Chagasic megaesophagus
PIK3CA
Mutation
Trypanosoma cruzi
Issue date2018
PublisherSpringer Nature
JournalInfectious Agents and Cancer
CitationMunari, F. F., Cruvinel-Carloni, A., Lacerda, C. F., de Oliveira, A. T. T., et. al.(2018). PIK3CA mutations are frequent in esophageal squamous cell carcinoma associated with chagasic megaesophagus and are associated with a worse patient outcome. Infectious agents and cancer, 13(1), 43
Abstract(s)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.
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.
TypeArticle
URIhttp://hdl.handle.net/1822/59781
DOI10.1186/s13027-018-0216-3
ISSN1750-9378
e-ISSN1750-9378
Publisher versionhttps://infectagentscancer.biomedcentral.com/articles/10.1186/s13027-018-0216-3
Peer-Reviewedyes
AccessOpen access
Appears in Collections:ICVS - Artigos em Revistas Internacionais com Referee

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