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La genómica integradora identifica a LMO1 como un neuroblastoma oncogénico
Kai Wang1, Sharon J Diskin, Haitao Zhang
1The Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.
Nature
|December 3, 2010
Resumen
Las variaciones genéticas en el gen LMO1 aumentan significativamente el riesgo de desarrollar neuroblastoma, un cáncer infantil grave. Estos factores genéticos también contribuyen a la enfermedad.
Área de la Ciencia:
- Genética La genética.
- Oncología Oncología.
- Biología Molecular Biología Molecular
Sus antecedentes:
- El neuroblastoma es una causa significativa de muertes por cáncer infantil.
- La identificación de factores de riesgo genéticos es crucial para comprender el desarrollo del neuroblastoma.
- El gen LMO1 y los miembros de su familia tienen papeles conocidos en el cáncer.
Objetivo del estudio:
- Para identificar los factores de riesgo genéticos para el neuroblastoma utilizando un estudio de asociación de todo el genoma (GWAS).
- Investigar el papel del gen LMO1 en la susceptibilidad y progresión del neuroblastoma.
Principales métodos:
- Estudio de asociación de todo el genoma (GWAS) en 2.251 pacientes con neuroblastoma y 6.097 controles.
- Análisis de las alteraciones del número de copias de ADN en todo el genoma en 701 tumores de neuroblastoma primario.
- Estudios funcionales utilizando líneas celulares para evaluar el papel de LMO1 en la proliferación y la expresión génica.
Principales resultados:
- Se encontró una asociación significativa entre las variantes de LMO1 (rs110419) y el riesgo de neuroblastoma (P = 5,2 × 10-16).
- La duplicación del locus LMO1 se produjo en el 12,4% de los tumores, lo que se correlaciona con enfermedad avanzada y peor supervivencia.
- El aumento de la expresión de LMO1 se relacionó tanto con los alelos de riesgo de la línea germinal como con las ganancias de número de copias somáticas, lo que sugiere un mecanismo de ganancia de función.
Conclusiones:
- Los polimorfismos comunes de LMO1 están fuertemente asociados con la susceptibilidad al neuroblastoma.
- Las alteraciones de LMO1 contribuyen a la progresión maligna e impactan en la supervivencia del paciente.
- Dirigirse a LMO1 puede ofrecer estrategias terapéuticas para el neuroblastoma.
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