Mutaciones en el gen BCR-ABL1 en un paciente peruano con leucemia linfoblástica aguda resistente a terapia
DOI:
https://doi.org/10.31053/1853.0605.v74.n2.16463Palavras-chave:
Proteínas de fusión, bcr-abl, Leucemia, Resistencia al tratamiento, Mutación, Análisis de secuenciasResumo
Introducción: El gen de fusión BCR-ABL1 está presente en al menos la cuarta parte de pacientes adultos con leucemia linfoblástica aguda de células B. Su detección determina la viabilidad del tratamiento con inhibidores de tirosina quinasas (TKIs) que se controla mediante la cuantificación de transcritos de BCR-ABL1. Algunos pacientes no responden o recaen al tratamiento debido a la presencia de mutaciones en el dominio tirosina quinasa del gen BCR-ABL1. Reporte de caso: Se reporta un paciente con BCR-ABL1 que logra una respuesta molecular luego de iniciado la terapia con imatinib; sin embargo, recae después de quince meses cambiándose el tratamiento a dasatinib. El cambio no permitió una respuesta molecular a la terapia. Retrospectivamente, se realizó la búsqueda de mutaciones en el BCR-ABL1 encontrándose tres mutaciones de resistencia a terapia (E459K, E255K y V299L). Conclusiones: La aparición de mutaciones durante el tratamiento con TKIs tiene un fuerte impacto en el progreso de la enfermedad, siendo relevante la búsqueda de mutaciones ante recaída o persistencia de transcritos del BCR-ABL1.
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