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

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art_FREITAS_Proficiency_of_DNA_repair_genes_and_microsatellite_instability_2015.PDF (330.54 KB)
Citações na Scopus
8
Tipo de produção
article
Data de publicação
2015
DOI
Scopus
Web of Science
PubMed
Título da Revista
ISSN da Revista
Título do Volume
Editora
PIONEER BIOSCIENCE PUBL CO
Autores
CAVALCANTE, Juliana Magalhaes
CARRARO, Dirce
COUDRY, Renata de Almeida
DINIZ, Marcio Augusto
Citação
JOURNAL OF GASTROINTESTINAL ONCOLOGY, v.6, n.6, p.628-637, 2015
Projetos de Pesquisa
Unidades Organizacionais
Fascículo
Resumo
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.
Palavras-chave
Hereditary nonpolyposis colorectal cancer (HNPCC), immunohistochemical (IHC), lynch syndrome (LS), microsatellite instability (MSI), B-raf
URI
https://observatorio.fm.usp.br/handle/OPI/13981
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Coleções
Artigos e Materiais de Revistas Científicas - FM/MPT
Artigos e Materiais de Revistas Científicas - FM/MGT
Artigos e Materiais de Revistas Científicas - HC/ICESP
Artigos e Materiais de Revistas Científicas - HC/ICHC
Artigos e Materiais de Revistas Científicas - LIM/14
Artigos e Materiais de Revistas Científicas - LIM/37
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