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El origen prenatal de la leucemia linfoblástica aguda en niños
J L Wiemels1, G Cazzaniga, M Daniotti
1Leukaemia Research Fund Centre, Institute of Cancer Research, Chester Beatty Laboratories, London, UK.
Lancet (London, England)
|November 7, 1999
Resumen
La leucemia linfoblástica aguda infantil (LLA) a menudo comienza antes del nacimiento. La fusión TEL-AML1, común en la ALL, puede ocurrir en el útero, pero requiere un evento posterior para el desarrollo completo de la leucemia.
Área de la Ciencia:
- Genética La genética.
- Oncología Pediátrica Oncología Pediátrica.
- Biología Molecular Biología Molecular
Sus antecedentes:
- Comprensión limitada de la historia natural de la leucemia infantil.
- La fusión del gen TEL-AML1 es común en la leucemia linfoblástica aguda infantil (ALL).
- Investigando el origen prenatal de la anomalía TEL-AML1.
Objetivo del estudio:
- Determinar si la fusión del gen TEL-AML1 en la infancia ALL surge prenatalmente.
- Investigar el momento del evento de translocación cromosómica que conduce a la fusión TEL-AML1.
Principales métodos:
- Cribado para la fusión TEL-AML1 en 12 niños con LLA utilizando RT-PCR.
- Amplificación y secuenciación de la fusión genómica TEL-AML1.
- Utilizando PCR inversa de larga distancia y primers específicos para el paciente.
- El análisis de las manchas de sangre neonatal para la detección de la fusión prenatal.
Principales resultados:
- Secuencias de fusión de TEL-AML1 detectadas en manchas de sangre neonatales de gemelos idénticos con ALL.
- La evidencia sugiere el origen prenatal de la fusión TEL-AML1 en un gemelo.
- Seis de los nueve pacientes evaluables mostraron manchas de sangre positivas para la fusión.
Conclusiones:
- La LLA infantil se inicia con frecuencia por una translocación cromosómica en el útero.
- El evento de fusión TEL-AML1 por sí solo es insuficiente para la leucemia clínica.
- Un evento postnatal es necesario para el desarrollo de la leucemia clínica.
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