Proficiency of DNA repair genes and microsatellite instability in operated colorectal cancer patients with clinical suspicion of lynch syndrome.

Autor:	de Freitas IN; 1 Department of Gastroenterology and Pathology, University of São Paulo School of Medicine, São Paulo, SP, Brazil ; 2 Hospital A.C. Camargo, São Paulo, SP, Brazil., de Campos FG; 1 Department of Gastroenterology and Pathology, University of São Paulo School of Medicine, São Paulo, SP, Brazil ; 2 Hospital A.C. Camargo, São Paulo, SP, Brazil., Alves VA; 1 Department of Gastroenterology and Pathology, University of São Paulo School of Medicine, São Paulo, SP, Brazil ; 2 Hospital A.C. Camargo, São Paulo, SP, Brazil., Cavalcante JM; 1 Department of Gastroenterology and Pathology, University of São Paulo School of Medicine, São Paulo, SP, Brazil ; 2 Hospital A.C. Camargo, São Paulo, SP, Brazil., Carraro D; 1 Department of Gastroenterology and Pathology, University of São Paulo School of Medicine, São Paulo, SP, Brazil ; 2 Hospital A.C. Camargo, São Paulo, SP, Brazil., Coudry Rde A; 1 Department of Gastroenterology and Pathology, University of São Paulo School of Medicine, São Paulo, SP, Brazil ; 2 Hospital A.C. Camargo, São Paulo, SP, Brazil., Diniz MA; 1 Department of Gastroenterology and Pathology, University of São Paulo School of Medicine, São Paulo, SP, Brazil ; 2 Hospital A.C. Camargo, São Paulo, SP, Brazil., Nahas SC; 1 Department of Gastroenterology and Pathology, University of São Paulo School of Medicine, São Paulo, SP, Brazil ; 2 Hospital A.C. Camargo, São Paulo, SP, Brazil., Ribeiro U Jr; 1 Department of Gastroenterology and Pathology, University of São Paulo School of Medicine, São Paulo, SP, Brazil ; 2 Hospital A.C. Camargo, São Paulo, SP, Brazil.
Jazyk:	angličtina
Zdroj:	Journal of gastrointestinal oncology [J Gastrointest Oncol] 2015 Dec; Vol. 6 (6), pp. 628-37.
DOI:	10.3978/j.issn.2078-6891.2015.089
Abstrakt:	Background: Lynch syndrome (LS) diagnosis is underestimated, and most of the patients remain undetected after colorectal resections. The study aims to assess the frequency of LS in patients undergoing surgical treatment for colorectal cancer (CRC). Methods: A total of 458 CRC patients were operated from January 2005 to December 2008. Positive CRC family history (FH) was present in 118 (25.8%) patients. Histologic sections were reviewed for microsatellite instability (MSI) criteria (Bethesda guidelines), immunohistochemical (IHC) analysis for MLH1, MSH2, MSH6, PMS2 proteins, through the avidin-biotin-peroxidase complex, MSI (BAT-25, BAT-26, NR-21, NR-24 and MONO-27) and BRAF somatic mutation. Results: Of the 118 patients with FH, 61 (51.69%) met at least one of the revised Bethesda criteria. IHC was abnormal in 8 (13.1%) and MSI in 12 patients (20%). BRAF was negative in all cases. MSI histopathological included: intratumoral lymphocytes (47.5%), expansive tumors (29.5%) mucinous component (27.8%) and Crohn's like reaction in (14.7%). There was an association between the revised Bethesda criteria with: sex, mucinous histology and Crohn's like reaction; MSI and IHC with PMS2 and MLH1. Revised Bethesda criteria 4 had 10.6 increased chances to display positive MSI. We have proposed a score to contribute as a practical tool in the diagnosis of LS. Conclusions: The frequence of LS in resected CRC patients was 2.6%. The criterion 4 Revised Bethesda was associated more strongly with the presence of MSI.
Databáze:	MEDLINE
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