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La secuenciación del transcriptoma para detectar fusiones de genes en el cáncer

Christopher A Maher¹, Chandan Kumar-Sinha, Xuhong Cao

¹Michigan Center for Translational Pathology, Ann Arbor, USA.

|January 13, 2009

Resumen

Los científicos desarrollaron un nuevo método de secuenciación para descubrir nuevas fusiones de genes en cánceres. Esta tubería identifica importantes mutaciones relacionadas con el cáncer en tumores sólidos y cánceres de la sangre.

Área de la Ciencia:

La genómica es la genómica.
Biología del cáncer Biología del cáncer.
La bioinformática es la bioinformática.

Sus antecedentes:

Las fusiones genéticas recurrentes son características de las malignidades hematológicas y los tumores raros.
Los hallazgos recientes indican su presencia en tumores sólidos comunes, lo que requiere nuevos métodos de descubrimiento.

Objetivo del estudio:

Establecer una tubería robusta para el descubrimiento de nuevas fusiones de genes utilizando secuenciación integrativa del transcriptoma.
Validar la tubería mediante el redescubrimiento de fusiones conocidas e identificar nuevas.

Principales métodos:

Análisis integrador de datos de secuenciación de transcriptomas de larga y corta lectura de alto rendimiento.
Pipeline bioinformática para la identificación de transcripciones quiméricas.
Validación experimental de nuevas fusiones de genes.

Principales resultados:

Redescubrió con éxito las fusiones de genes BCR-ABL1 y TMPRSS2-ERG.
Fusiones genéticas novedosas nominadas y validadas experimentalmente en líneas celulares cancerosas y tumores.
Demostró la utilidad de la tubería para la caracterización integral de las fusiones de genes.

Conclusiones:

La tubería desarrollada ofrece un enfoque robusto para descubrir nuevas fusiones de genes en el cáncer.
Este trabajo amplía la comprensión de las fusiones de genes en tumores sólidos comunes.
Facilita la caracterización integral de las quimeras genéticas asociadas con el cáncer.

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