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2020, Número 3

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Rev Cubana Hematol Inmunol Hemoter 2020; 36 (3)


Frecuencia de aberraciones moleculares en pacientes cubanos con leucemia mieloide aguda

Amor VAM, Hernández MLL, Díaz ACA, Ruiz MV, Fernández ML, Oliva HI, Garrote SH

Idioma: Español
Referencias bibliográficas: 58
Paginas:
Archivo PDF: 499.19 Kb.


RESUMEN

Introducción: En el Instituto de Hematología e Inmunología se realiza el estudio molecular de las leucemias mieloides agudas (LMA). Para las leucemias mieloides agudas no promielocíticas (LPM) se determinan cuatro biomarcadores: los genes de fusión RUNX1-RUNX1T1 y CBF(-MYH11, la duplicación interna en tándem del gen FLT3 (DIT FLT3) y la mutación “A” del gen NPM1 (NPM1-A).
Objetivo: Determinar la frecuencia de estos cuatro biomarcadores, en pacientes cubanos con leucemias mieloides agudas primaria no promielocíticas.
Métodos: Se incluyeron 91 pacientes entre niños y adultos, estudiados en el Instituto durante tres años desde el debut. A partir de ARN de sangre medular se obtuvo ADN complementario por transcripción inversa; se amplificaron los fragmentos correspondientes mediante la reacción en cadena de la polimerasa y el producto se analizó por electroforesis capilar.
Resultados: El RUNX1-RUNX1T1 apareció en el 24,2 %, fue más frecuente en los pacientes pediátricos y disminuyó significativamente con la edad. El CBFβ-MYH11 solo se encontró en adultos (4,8 %). La NPM1-A con 41 % fue mayoritaria entre los adultos. La DIT FLT3 se observó en el 21,6 % y no mostró relación con la edad. NPM1-A y DIT FLT3 fueron las aberraciones con mayor presencia simultánea.
Conclusiones: Por primera vez se describe la frecuencia de los cuatro biomarcadores moleculares en los pacientes cubanos con leucemias mieloides agudas primaria no promielocíticas; su comportamiento fue similar a lo descrito por otros autores, aunque se encontraron algunas particularidades.


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