Caracterización molecular de pacientes con cáncer colorrectal

Carlos Humberto Afanador , Katherine Andrea Palacio , Luis Fernando Isaza , Enoc Ahumada , Carlos Mauricio Ocampo , Carlos Mario Muñetón, .

Palabras clave: neoplasias colorrectales/genética, genes supresores de tumor, oncogenes, heterogeneidad genética, inestabilidad de microsatélites, epigenómica

Resumen

Introducción. El cáncer colorrectal tiene una alta incidencia en la población mundial. Diversas vías moleculares están involucradas en su desarrollo, entre ellas, la inestabilidad cromosómica, la inestabilidad microsatelital y la epigenética.
Objetivo. Hacer la caracterización molecular de 44 individuos con cáncer colorrectal esporádico.
Materiales y métodos. El análisis de mutaciones en los genes APC, KRAS, TP53 y BRAF se hizo mediante secuenciación de Sanger; la inestabilidad microsatelital se determinó mediante electroforesis capilar utilizando cinco marcadores de repetición corta en tándem (Short Tandem Repeat) y el estado de metilación del promotor del gen MLH1 se hizo con la técnica MS-PCR (Methylation-Specific PCR).
Resultados. La frecuencia de mutación de los genes APC, KRAS y TP53 fue del 18,1, 25 y 4,5 %, respectivamente; las mutaciones detectadas se localizaron con mayor frecuencia en el colon derecho. La frecuencia de inestabilidad microsatelital fue del 27,2 % y el 73,1 % en los tumores con metilación en el gen MHL1, y el 91,6 % de los tumores con inestabilidad microsatelital presentaba metilación en el gen MLH1. En el grupo de tumores con estabilidad microsatelital, las mutaciones en los genes APC, KRAS y TP53 fueron más frecuentes que en el grupo de tumores con inestabilidad microsatelital. La metilación del gen MLH1 fue la alteración más predominante.
Conclusiones. En los pacientes con cáncer colorrectal evaluados se demostró la presencia de alteraciones moleculares en las diferentes vías genéticas, las cuales son comunes en su carcinogénesis. Los pacientes presentaron un perfil de mutaciones diferente al de otras poblaciones. Los hallazgos obtenidos en este estudio confirman la heterogeneidad molecular descrita en el desarrollo del cáncer colorrectal.

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Cómo citar
1.
Afanador CH, Palacio KA, Isaza LF, Ahumada E, Ocampo CM, Muñetón CM. Caracterización molecular de pacientes con cáncer colorrectal. biomedica [Internet]. 1 de mayo de 2022 [citado 26 de noviembre de 2022];42(Sp. 1):154-71. Disponible en: https://revistabiomedica.org/index.php/biomedica/article/view/5957
Publicado
2022-05-01

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