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2024, Número 4

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Acta Pediatr Mex 2024; 45 (4)


Anemia de Fanconi, Parte 3. Seguimiento citogenético en médula ósea de pacientes con anemia de Fanconi

Sánchez S, Reyes P, Mejía BMA, Paz MA, Frias S

Idioma: Español
Referencias bibliográficas: 41
Paginas: 343-360
Archivo PDF: 500.47 Kb.


RESUMEN

La anemia de Fanconi es el síndrome de falla medular hereditaria más frecuente; en estos pacientes suele desarrollarse de manera progresiva y las complicaciones hematológicas pueden agravarse durante la adolescencia y la adultez temprana hasta el desarrollo de condiciones asociadas a neoplasias, como el síndrome mielodisplásico y la leucemia mieloide aguda.
El inicio y evolución hacia la neoplasia en la anemia de Fanconi, ha sido asociado a pérdidas y ganancias de regiones cromosómicas y pueden ser monitoreadas a través de la búsqueda de alteraciones citogenéticas clonales, distintivas de la enfermedad que se localizan en los cromosomas 1, 3 y 7. En este artículo presentamos la metodología seguida por nuestro laboratorio para la detección y seguimiento de los cambios cromosómicos, a través de técnicas de bandeo GTG e hibridación in situ con fluorescencia. Dicha estrategia representa una forma costo-efectiva para realizar el seguimiento longitudinal de los cambios en la médula ósea de los pacientes que, de manera conjunta con el análisis morfológico y el monitoreo de los recuentos sanguíneos periféricos, permite la toma de decisiones terapéuticas oportunas, como la programación de trasplante de células troncales y progenitoras hematopoyéticas, cuando es posible.


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