دورية أكاديمية

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

التفاصيل البيبلوغرافية
العنوان: PIK3CA mutations are frequent in esophageal squamous cell carcinoma associated with chagasic megaesophagus and are associated with a worse patient outcome.
المؤلفون: Munari FF; 1Molecular Oncology Research Center, Barretos Cancer Hospital, Rua Antenor Duarte Villela, 1331, Barretos, SP CEP 14784 400 Brazil., Cruvinel-Carloni A; 1Molecular Oncology Research Center, Barretos Cancer Hospital, Rua Antenor Duarte Villela, 1331, Barretos, SP CEP 14784 400 Brazil., Lacerda CF; 1Molecular Oncology Research Center, Barretos Cancer Hospital, Rua Antenor Duarte Villela, 1331, Barretos, SP CEP 14784 400 Brazil.; 2Department of Digestive Surgery, Barretos Cancer Hospital, Barretos, SP Brazil., de Oliveira ATT; 2Department of Digestive Surgery, Barretos Cancer Hospital, Barretos, SP Brazil., Scapulatempo-Neto C; 1Molecular Oncology Research Center, Barretos Cancer Hospital, Rua Antenor Duarte Villela, 1331, Barretos, SP CEP 14784 400 Brazil.; 3Department of Pathology, Diagnosis of Biopsies and Surgical Specimens, Barretos Cancer Hospital, Barretos, SP Brazil., da Silva SRM; 3Department of Pathology, Diagnosis of Biopsies and Surgical Specimens, Barretos Cancer Hospital, Barretos, SP Brazil., Crema E; 4Department of Digestive Surgery and Pathology, Medical School, UFTM - Federal University of Triangulo Mineiro, Uberaba, Minas Gerais Brazil., Adad SJ; 4Department of Digestive Surgery and Pathology, Medical School, UFTM - Federal University of Triangulo Mineiro, Uberaba, Minas Gerais Brazil., Rodrigues MAM; 5Departament of Gastroenterology Surgery and Pathology, Medical School, UNESP, São Paulo State University, Botucatu, SP Brazil., Henry MACA; 5Departament of Gastroenterology Surgery and Pathology, Medical School, UNESP, São Paulo State University, Botucatu, SP Brazil., Guimarães DP; 1Molecular Oncology Research Center, Barretos Cancer Hospital, Rua Antenor Duarte Villela, 1331, Barretos, SP CEP 14784 400 Brazil.; 6Department of Endoscopy, Barretos Cancer Hospital, Barretos, SP Brazil., Longatto-Filho A; 1Molecular Oncology Research Center, Barretos Cancer Hospital, Rua Antenor Duarte Villela, 1331, Barretos, SP CEP 14784 400 Brazil.; 7Department of Radiology and Oncology, Medical School, USP - University of São Paulo, São Paulo, Brazil.; 8Medical Laboratory of Medical Investigation (LIM) 14, Department of Pathology, Medical School, USP - University of São Paulo, São Paulo, Brazil.; 9Life and Health Sciences Research Institute (ICVS), School of Health Sciences, University of Minho, Braga, Portugal., Reis RM; 1Molecular Oncology Research Center, Barretos Cancer Hospital, Rua Antenor Duarte Villela, 1331, Barretos, SP CEP 14784 400 Brazil.; 9Life and Health Sciences Research Institute (ICVS), School of Health Sciences, University of Minho, Braga, Portugal.; 10ICVS/3B's - PT Government Associate Laboratory, Braga/Guimarães, Portugal.
المصدر: Infectious agents and cancer [Infect Agent Cancer] 2018 Dec 29; Vol. 13, pp. 43. Date of Electronic Publication: 2018 Dec 29 (Print Publication: 2018).
نوع المنشور: Journal Article
اللغة: English
بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101276559 Publication Model: eCollection Cited Medium: Print ISSN: 1750-9378 (Print) Linking ISSN: 17509378 NLM ISO Abbreviation: Infect Agent Cancer Subsets: PubMed not MEDLINE
أسماء مطبوعة: Original Publication: London : BioMed Central, 2006-
مستخلص: 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.
Competing Interests: The local ethic committees approved the study (number 1010/2015).Not applicable.The authors declare that they have no competing interests for this present study.Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.
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فهرسة مساهمة: Keywords: Achalasia; Chagasic megaesophagus; Esophageal cancer; Esophageal squamous cell carcinoma; Mutation; PIK3CA; Trypanosoma cruzi
تواريخ الأحداث: Date Created: 20190109 Latest Revision: 20220331
رمز التحديث: 20240628
مُعرف محوري في PubMed: PMC6311070
DOI: 10.1186/s13027-018-0216-3
PMID: 30619505
قاعدة البيانات: MEDLINE
الوصف
تدمد:1750-9378
DOI:10.1186/s13027-018-0216-3