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Identificación de las alteraciones genómicas en el cáncer de células escamosas del esófago
Yongmei Song1, Lin Li2, Yunwei Ou3
11] State Key Laboratory of Molecular Oncology, Cancer Institute and Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100021, China [2].
Nature
|March 28, 2014
Resumen
Este estudio analiza exhaustivamente la genómica del carcinoma de células escamosas esofágicas (ESCC), identificando nuevos genes mutados como FAM135B y el microARN oncogénico MIR548K. Los hallazgos revelan nuevas dianas y vías terapéuticas para este cáncer agresivo.
Área de la Ciencia:
- Genómica y Oncología.
- Investigación de la patogénesis del cáncer Investigación de la patogénesis del cáncer.
Sus antecedentes:
- El cáncer de esófago es una neoplasia maligna altamente agresiva, siendo el carcinoma de células escamosas esofágicas (CCEEs) la forma predominante en China.
- Las opciones limitadas de diagnóstico y tratamiento temprano resultan en una pobre tasa de supervivencia a cinco años del 10% para los pacientes con CCE.
- El paisaje genómico completo que impulsa la patogénesis del ESCC sigue siendo en gran medida indefinido.
Objetivo del estudio:
- Para llevar a cabo un análisis genómico exhaustivo de una gran cohorte de casos de ESCC.
- Identificar nuevas alteraciones genéticas, genes mutados y vías oncogénicas involucradas en el desarrollo del ESCC.
- Descubrir nuevos biomarcadores potenciales y objetivos terapéuticos para mejorar las estrategias de tratamiento del CCEC.
Principales métodos:
- Se realizó la secuenciación del genoma completo (WGS) y la secuenciación del exoma completo (WES) en muestras de ESCC.
- Se utilizó la hibridación genómica comparativa de matrices (aCGH) para analizar las variaciones en el número de copias.
- Se realizaron ensayos funcionales para validar el potencial oncogénico de los genes y microARN identificados.
Principales resultados:
- Identificaron ocho genes significativamente mutados, incluidos dos nuevos genes asociados al ESCC: ADAM29 y FAM135B.
- Descubrió MIR548K, un microARN en una región amplificada, que actúa como un nuevo oncogén que promueve la malignidad del ESCC.
- Se encontraron frecuentes alteraciones en los genes reguladores de histonas e identificaron las principales vías afectadas: Wnt, ciclo celular y Notch.
Conclusiones:
- Este estudio aclara los eventos y vías genómicas clave en ESCC, destacando FAM135B y MIR548K como nuevos oncogenes.
- Se observaron similitudes genómicas con el carcinoma de células escamosas de cabeza y cuello y vínculos con el consumo de alcohol.
- Los hallazgos proporcionan una base para desarrollar mejores estrategias diagnósticas y terapéuticas para el carcinoma de células escamosas esofágicas.
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