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Universal determination of microsatellite instability using BAT26 as a single marker in an Argentine colorectal cancer cohort.
González, María Laura; Causada-Calo, Natalia; Santino, Juan Pablo; Dominguez-Valentin, Mev; Ferro, Fabiana Alejandra; Sammartino, Inés; Kalfayan, Pablo Germán; Verzura, Maria Alicia; Piñero, Tamara Alejandra; Cajal, Andrea Romina; Pavicic, Walter; Vaccaro, Carlos.
Afiliación
  • González ML; Programa de Cáncer Hereditario (ProCanHe), Hospital Italiano de Buenos Aires, Buenos Aires, Argentina. marialaura.gonzalez@hospitalitaliano.org.ar.
  • Causada-Calo N; Gastroenterology Department, Hospital Italiano de Buenos Aires, 4190 Juan D. Perón St. (C1199ABD), Buenos Aires, Argentina. marialaura.gonzalez@hospitalitaliano.org.ar.
  • Santino JP; Programa de Cáncer Hereditario (ProCanHe), Hospital Italiano de Buenos Aires, Buenos Aires, Argentina.
  • Dominguez-Valentin M; Gastroenterology Department, Hospital Italiano de Buenos Aires, 4190 Juan D. Perón St. (C1199ABD), Buenos Aires, Argentina.
  • Ferro FA; Department of Medicine, Farncombe Family Digestive Research Institute, McMaster University, Hamilton, ON, Canada.
  • Sammartino I; Programa de Cáncer Hereditario (ProCanHe), Hospital Italiano de Buenos Aires, Buenos Aires, Argentina.
  • Kalfayan PG; Pathology Department, Hospital Italiano de Buenos Aires, Buenos Aires, Argentina.
  • Verzura MA; Department of Tumor Biology, Institute for Cancer Research, The Norwegian Radium Hospital, Oslo, Norway.
  • Piñero TA; Programa de Cáncer Hereditario (ProCanHe), Hospital Italiano de Buenos Aires, Buenos Aires, Argentina.
  • Cajal AR; Programa de Cáncer Hereditario (ProCanHe), Hospital Italiano de Buenos Aires, Buenos Aires, Argentina.
  • Pavicic W; Programa de Cáncer Hereditario (ProCanHe), Hospital Italiano de Buenos Aires, Buenos Aires, Argentina.
  • Vaccaro C; Programa de Cáncer Hereditario (ProCanHe), Hospital Italiano de Buenos Aires, Buenos Aires, Argentina.
Fam Cancer ; 17(3): 395-402, 2018 07.
Article en En | MEDLINE | ID: mdl-29128931
Microsatellite instability (MSI) is a hallmark tool for Lynch syndrome (LS) screening and a prognostic marker for sporadic colorectal cancer (CRC). In regions with limited resources and scarce CRC molecular characterization as South America, the implementation of universal MSI screening is under debate for both its purposes. We sought to estimate the frequency of BAT26 in colorectal adenocarcinomas and to determine associated clinical and histological features. Consecutive patients from a CRC registry were included. BAT26 determination was performed in all cases; if instability was found, immunohistochemistry (IHC) and BRAF mutation analyses were done, as appropriate. Differences were assessed by chi-squared or Fisher's exact test, or by T test or Mann-Whitney. Multiple logistic regression was used to identify factors independently associated with BAT26-unstable tumors. We included 155 patients; mean age was 65.6 (SD 14.4) and 56.1% were male. The frequency of BAT26-unstable tumors was 22% (95% CI 15.7-29.3). Factors independently associated with BAT26-unstable tumors were right colon localization (OR 3.4, 95% CI 1.3-8.7), histological MSI features (OR 5.1, 95% CI 1.9-13.6) and Amsterdam criteria (OR 23.2, 95% CI 1.9-286.7). IHC was altered in 85.3% BAT26-unstable tumors and 70.6% lacked MLH1 expression; 47.8% of these harbored BRAF V600E mutation. We provide evidence to link the frequency of BAT26 to an increased diagnostic yield (up to 1.4-folds) of suspected LS cases in comparison to the revised Bethesda guidelines alone. In regions with limited resources, clinical and histological features associated with BAT26-unstable status could be useful to direct MSI screening in sporadic CRCs and may help guide clinical care and future research.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Neoplasias Colorrectales / Adenocarcinoma / Biomarcadores de Tumor / Marcadores Genéticos / Repeticiones de Microsatélite Tipo de estudio: Diagnostic_studies / Etiology_studies / Guideline / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adult / Aged / Female / Humans / Male / Middle aged País/Región como asunto: America do sul / Argentina Idioma: En Revista: Fam Cancer Asunto de la revista: NEOPLASIAS Año: 2018 Tipo del documento: Article País de afiliación: Argentina Pais de publicación: Países Bajos

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Neoplasias Colorrectales / Adenocarcinoma / Biomarcadores de Tumor / Marcadores Genéticos / Repeticiones de Microsatélite Tipo de estudio: Diagnostic_studies / Etiology_studies / Guideline / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adult / Aged / Female / Humans / Male / Middle aged País/Región como asunto: America do sul / Argentina Idioma: En Revista: Fam Cancer Asunto de la revista: NEOPLASIAS Año: 2018 Tipo del documento: Article País de afiliación: Argentina Pais de publicación: Países Bajos