Biomarcadores genéticos en sangre, una nueva herramienta para el diagnóstico, pronóstico y supervivencia en pacientes con gliomas de alto grado
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Durante mucho tiempo, la clasificación de los tumores del sistema nervioso central (SNC) se ha basado en hallazgos histológicos respaldados por pruebas complementarias, como la inmunohistoquímica, establecidas en tejidos. La quinta edición de la clasificación de tumores del SNC de la Organización Mundial de la Salud (OMS), publicada en 2021 (SNC-5) incorpora numerosos marcadores moleculares con utilidad clínico-patológica que son importantes para una clasificación más precisa de las neoplasias del SNC. Ello permiten ayudar a definir los gliomas difusos del adulto, oligodendroglioma mutado para el gen de la IDH (isocitrato deshidrogenasa láctica), con codeleción 1p/19q grados 2 a 3, astrocitoma mutado para IDH sin codeleción 1p/19q, grados 2 a 4 y glioblastoma (GBM) silvestre para IDH. La mediana de sobrevida en los pacientes con GBM es de solo 14.6 meses, debido a la resistencia al protocolo de terapia más utilizado en el mundo, el cual involucra cirugía, radioterapia y quimioterapia con temozolamida (TMZ), un potente alquilante genotóxico. Los criterios de selección del tratamiento y la estimación del pronóstico en pacientes con esta enfermedad son clínico-patológicos. En los últimos años se reportaron numerosas alteraciones moleculares que amplían la comprensión de la biología de estos tumores, pero solo unas pocas influyen como biomarcadores en la toma de decisiones clínicas y del tratamiento. En este artículo se revisan las alteraciones moleculares reportadas para gliomas de alto grado en sangre periférica, también se resalta la importancia de estandarizar nuevos biomarcadores junto a los hallazgos histológicos para mejorar el conocimiento de estos tumores.
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