Patología molecular y biobancos en medicina de precisión del cáncer
Molecular pathology and biobanks in precision cancer medicine
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Introducción: la patología molecular constituye un eje central de la medicina de precisión en oncología, al integrar hallazgos morfológicos, inmunohistoquímicos y técnicas de biología molecular para identificar biomarcadores en ADN, ARN y proteínas. Estos biomarcadores impactan de manera directa en el diagnóstico, el pronóstico y la selección de terapias personalizadas.
Métodos: Se realizó una revisión de la literatura en bases de datos como PubMed, Embase, Scopus, y Google Scholar.
Resultados: entre las técnicas más empleadas se incluyen la inmunohistoquímica, la hibridación in situ, la reacción en cadena de la polimerasa y la secuenciación de nueva generación (NGS). Dichas metodologías permiten detectar alteraciones genómicas como variantes puntuales, indeles, variaciones en el número de copias y fusiones, con consecuencias relevantes en la evolución tumoral y la respuesta terapéutica.
Discusión: actualmente, se dispone de una amplia gama de biomarcadores en los cuales existe terapía dirigida basado en la alteración molecular puntual. De igual forma, han cobrado importancia los biomarcadores agnósticos que permiten decisiones terapéuticas transversales, independientemente del origen histológico. En paralelo, la evaluación de PD-L1, se ha convertido en una herramienta esencial para seleccionar pacientes candidatos a inmunoterapia. En este escenario de la patología molecular, los biobancos emergen como infraestructuras estratégicas para la medicina de precisión, al garantizar trazabilidad, calidad y estandarización en la gestión de muestras y datos asociados.
Conclusión: el Biobanco Nacional de Tumores Terry Fox, en Colombia, representa un ejemplo regional de cómo estas plataformas fortalecen la investigación traslacional y promueven colaboraciones internacionales.
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