Análisis de metilación en los genes supresores de tumores CDKN2B y DBC1 en pacientes colombianos con diagnóstico de leucemia
Palabras clave:
Metilación del ADN, Leucemias, LLA, LMA, LMC, Epigenética, Genes supresores de tumoresResumen
Objetivo: Analizar la metilación en los promotores de los genes CDKN2B y DBC1 en muestras de pacientes con leucemia linfoblástica aguda (LLA), leucemia mieloblástica aguda (LMA) y leucemia mieloide crónica (LMC). Además, correlacionar el perfil de metilación de los pacientes con los hallazgos citogenéticos.
Materiales y métodos: Se evaluaron 56 pacientes con leucemias: 24 con LLA, 16 con LMA y 16 con LMC. El ADN extraído se modificó con bisulfito de sodio. Se realizó un análisis de metilación en los genes CDKN2B y DBC1 mediante la PCR específica de metilación (MS-PCR). Las muestras positivas por la técnica MS-PCR fueron secuenciadas.
Resultados: Se encontró una frecuencia total de metilación del 87,5%. El gen CDKN2B se encontró metilado en el 75% de LLA y de LMC, y del 62% en LMA. El gen DBC1 se encontró metilado en el 96% de LLA, el 94% de LMA y del 68,8% en LMC. El gen más frecuentemente metilado en todas las muestras fue DBC1. De los tres tipos de leucemias, la LLA fue la que presentó los mayores porcentajes de metilación. El 62,5% de la muestras tenían metilado ambos genes. Las muestras con cariotipo normal presentaron una alta frecuencia de metilación de CDKN2B y DBC1.
Conclusiones: En este estudio se demostró, por primera vez en pacientes colombianos con leucemias, que la metilación de los genes CDKN2B y DBC1 es un evento frecuente. Los hallazgos indican que la metilación de genes supresores de tumores es una vía molecular alterna que podría estar relacionada con el desarrollo de neoplasias hematológicas.
Biografía del autor/a
Laura María Medina Gómez, Universidad de Antioquia
Unidad de Genética Médica, Departamento de Pediatría, Facultad de Medicina, Universidad de Antioquia, Medellín, Colombia
Gonzalo Vásquez Palacio, Universidad de Antioquia
Unidad de Genética Médica, Departamento de Pediatría, Facultad de Medicina, Universidad de Antioquia, Medellín, Colombia
Carlos Mario Muñetón Peña, Universidad de Antioquia
Unidad de Genética Médica, Departamento de Pediatría, Facultad de Medicina, Universidad de Antioquia, Medellín, Colombia
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