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La amplificación oncogénica extracromosómica impulsa la evolución del tumor y la heterogeneidad genética
Kristen M Turner1, Viraj Deshpande2, Doruk Beyter2
1Ludwig Institute for Cancer Research, University of California at San Diego, La Jolla, California 92093, USA.
Nature
|February 9, 2017
Resumen
El ADN extracromosómico (ecDNA) se encuentra en casi la mitad de los cánceres humanos, a diferencia de las células normales. Este ADN circular amplifica los oncogenes, acelerando la evolución del cáncer y aumentando la heterogeneidad intratumoral.
Área de la Ciencia:
- La genómica
- Biología del cáncer
- Genética molecular
Sus antecedentes:
- Las células humanas poseen 23 pares de cromosomas.
- La amplificación génica en el cáncer puede ocurrir en los cromosomas o en el ADN extracromosómico (ecDNA).
- La prevalencia y la importancia funcional del ecDNA en el cáncer siguen siendo en gran medida desconocidas.
Objetivo del estudio:
- Investigar la frecuencia y la importancia funcional del ecDNA en los cánceres humanos.
- Desarrollar un método para la detección y el análisis imparciales del ADN ecológico.
- Para entender el papel del ecDNA en la evolución del cáncer.
Principales métodos:
- Secuenciación del genoma completo y análisis citogenéticos de 2.572 células que se dividen de 17 tipos de cáncer.
- Modelado estructural del ADN cromosómico y extracromosómico.
- Desarrollo del paquete de software ECdetect para el análisis ecDNA integrado.
Principales resultados:
- El ecDNA se detectó en casi el 50% de los cánceres humanos, con frecuencias variables según los tipos de tumor.
- El ecADN se observó raramente en las células normales.
- Los oncogenes conductores se amplificaron con frecuencia en el ecDNA, lo que condujo a un aumento de los niveles de transcripción.
- El modelado matemático y los análisis cuantitativos confirmaron que la amplificación del ecADN mejora el número de copias oncogénicas y la heterogeneidad intratumoral de manera más efectiva que la amplificación cromosómica.
Conclusiones:
- El ecADN es una característica común en los cánceres humanos, contribuyendo significativamente a la amplificación oncogénica.
- El ecADN juega un papel crucial en la aceleración de la evolución del cáncer y en el aumento de la heterogeneidad intratumoral.
- Los hallazgos destacan el ecDNA como un objetivo potencial para la terapia del cáncer.
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