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Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
Published on: September 20, 2016
Caracterización del genoma del cáncer en el adenocarcinoma pulmonar
Barbara A Weir1, Michele S Woo, Gad Getz
1Department of Medical Oncology and Center for Cancer Genome Discovery, Dana-Farber Cancer Institute, Boston, Massachusetts 02115, USA.
Nature
|November 6, 2007
Resumen
Este estudio analizó las alteraciones del número de copias en 371 adenocarcinomas pulmonares, identificando 57 eventos recurrentes. Los investigadores descubrieron NKX2-1 como un nuevo candidato proto-oncogénico que conduce el cáncer de pulmón.
Área de la Ciencia:
- La genómica es la genómica.
- Biología del cáncer Biología del cáncer.
- Oncología Molecular Oncología Molecular
Sus antecedentes:
- Las alteraciones del ADN somático son fundamentales para los cánceres humanos.
- Los avances en el análisis de todo el genoma impulsan la caracterización del genoma del cáncer.
- El adenocarcinoma pulmonar requiere un perfil genómico completo para terapias dirigidas.
Objetivo del estudio:
- Caracterizar sistemáticamente las alteraciones del número de copias en los adenocarcinomas pulmonares primarios.
- Identificar nuevos genes candidatos involucrados en el desarrollo del adenocarcinoma pulmonar.
- Para entender el panorama de los eventos genómicos en el cáncer de pulmón.
Principales métodos:
- Análisis de 371 tumores de adenocarcinoma primario de pulmón.
- Utilizó matrices de polimorfismo de nucleótido único denso (SNP) para el análisis de todo el genoma.
- Realizó análisis genómicos y funcionales para identificar genes candidatos.
Principales resultados:
- Se identificaron 57 eventos significativamente recurrentes de alteración del número de copia.
- 26 de los 39 brazos de cromosomas autosómicos mostraron cambios consistentes en el número de copias a gran escala.
- Se descubrieron 31 eventos focales recurrentes, incluidas 24 amplificaciones y 7 deleciones homocigóticas.
- Se identificó la amplificación de NKX2-1 (14q13.3) en ~12% de las muestras como un nuevo candidato proto-oncogénico.
Conclusiones:
- Muchos genes que impulsan el adenocarcinoma pulmonar siguen sin ser descubiertos.
- NKX2-1 es un nuevo proto-oncogén candidato implicado en el adenocarcinoma pulmonar.
- Las alteraciones del número de copias representan una fuente significativa de posibles objetivos terapéuticos en el cáncer de pulmón.
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