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PDF. Pag, 87-99

Palabras clave

Carcinoma
inestabilidad microsatelital
inmunohistoquímica para MMR
agregación familiar carcinoma
Microsatelite Instability
immunohistochemistry for MMRs

Cómo citar

Bohórquez, M. E., Criollo, Ángel A., Carvajal Carmona, L., & Echeverry de Polanco, M. M. (2019). Cáncer de colon en Colombia, fenotipo molecular: tamizaje para síndromes con agregación familiar. REVISTA DE LA ASOCIACION COLOMBIANA DE CIENCIAS BIOLOGICAS, 1(31), 87–99. https://doi.org/10.47499/revistaaccb.v1i31.185

Resumen

Objetivo: Caracterizar las características clínico-patológicas y algunos fenotipos moleculares del cáncer colorrectal (CCR), en 1278 pacientes de la región andina colombiana.
Métodos: Se analizó una muestra de 1278 pacientes con CCR. Análisis de expresión de los genes MMR-Mismatch Repair-hMLH1, utilizando métodos inmunohistoquímicos (IHC). Para inestabilidad microsatelital-MSI se utilizó ADN de tejido tumoral-normal mediante PCR.
Resultados: Promedio de edad 57,4 años, la enfermedad es más frecuente en el género femenino 53,2%. La frecuencia de pacientes menores de 50 años (26,5%) es mayor a la esperada, el CCR en estos casos se asoció a tipos histológicos agresivos -carcinoma mucinoso y carcinoma en anillo de sello- p=<0,000, los cuales, a su vez, resultaron asociados a inestabilidad microsatelital (MSI-H). La localización más frecuente: recto (31,1%), p=0,002, el diagnóstico se produjo en estados avanzados de la enfermedad T3-T4 (75,1%) p=0,022. Tipo histológico más frecuente: adenocarcinoma. La sensibilidad del análisis inmunohistoquímico de MLH1 para la detección de MSI+, fue de 71% (CI: 49 - 87). El análisis por IHC-MLH1 en 575 casos mostró pérdida de la expresión en el 7% de los pacientes. Las pruebas de MSI se realizaron en 451 casos de CCR; el 23% presentaron alta inestabilidad microsatelital (MSI-H).
Conclusión: La determinación de inestabilidad microsatelital y la inmunohistoquímica para MMR permiten identificar pacientes en riesgo de ser portadores de mutaciones relacionadas con síndrome de Lynch en pacientes colombianos.

https://doi.org/10.47499/revistaaccb.v1i31.185

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