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Nuevas entidades de tumores cerebrales surgen de la clasificación molecular de las RNPC
Dominik Sturm1,2, Brent A Orr3, Umut H Toprak4
1Division of Pediatric Neurooncology, German Cancer Research Center (DKFZ) and German Cancer Consortium (DKTK), 69120 Heidelberg, Germany.
Cell
|February 27, 2016
Resumen
Este estudio reclasifica los tumores neuroectodérmicos primitivos del sistema nervioso central (CNS-PNET). Las nuevas entidades moleculares con distintas alteraciones genéticas ofrecen un diagnóstico mejorado y terapias dirigidas para estos raros tumores cerebrales pediátricos y adultos.
Área de la Ciencia:
- Neuro-oncología
- Patología molecular
- Oncología Pediátrica
Sus antecedentes:
- Los tumores neuroectodérmicos primitivos del sistema nervioso central (CNS-PNET) son tumores embrionarios agresivos.
- El diagnóstico preciso es crucial para un tratamiento efectivo, pero puede ser un desafío debido a las características superpuestas.
Objetivo del estudio:
- Para reclasificar molecularmente las PNET del SNC diagnosticadas en instituciones.
- Identificar nuevas entidades tumorales del SNC con distintas alteraciones genéticas y características clínicas.
- Facilitar un mejor diagnóstico y estrategias terapéuticas para los tumores mal diferenciados del SNC.
Principales métodos:
- Perfiles moleculares completos de las RNPN del SNC.
- Análisis comparativo con entidades tumorales del SNC establecidas.
- Correlación de los datos histopatológicos y clínicos.
Principales resultados:
- Un subconjunto significativo de CNS-PNETs fue reclasificado en tipos de tumores conocidos.
- Se identificaron cuatro nuevas entidades tumorales moleculares del SNC: neuroblastoma del SNC con activación de FOXR2 (SNC NB-FOXR2), tumor de la familia del sarcoma de Ewing con alteración del CIC (SNC EFT-CIC), tumor neuroepitelial de alto grado del SNC con alteración del MN1 (SNC HGNET-MN1) y tumor neuroepitelial de alto grado del SNC con alteración del BCOR (SNC HGNET-BCOR).
- Cada nueva entidad está asociada con una alteración genética recurrente y características clínicas e histopatológicas únicas.
Conclusiones:
- La reclasificación molecular refina el diagnóstico de las PNET del SNC.
- La identificación de estas nuevas entidades proporciona una base para el desarrollo de terapias dirigidas.
- Este trabajo permitirá ensayos clínicos más precisos para pacientes con tumores mal diferenciados del SNC.
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