Diagnóstico molecular del cáncer: biomarcadores y su utilidad técnica

• Autores: Cristina Fabra García, Cristina Foncillas Sousa, Patricia Gutiérrez Cortés, Judith García Henríquez, María Teresa Pérez Fraigedo, Miriam Traid Pérez
• Localización: Revista Sanitaria de Investigación, ISSN-e 2660-7085, Vol. 6, Nº. 9, 2025
• Idioma: español
• Enlaces
  • Texto completo
• Resumen
  • español

    Objetivo: Revisar los avances en el diagnóstico molecular del cáncer mediante biomarcadores y analizar su utilidad técnica en el manejo clínico.

    Metodología: Revisión bibliográfica (2010–2025) en PubMed, Scopus y Web of Science, incluyendo artículos originales, revisiones sistemáticas y guías clínicas sobre biomarcadores moleculares en oncología. Se seleccionaron 50 documentos relevantes para síntesis cualitativa.

    Resultados: Los biomarcadores moleculares permiten: (1) diagnóstico temprano mediante mutaciones específicas y firmas genómicas; (2) estratificación pronóstica basada en expresión génica y perfil proteómico; (3) selección de terapias dirigidas mediante alteraciones genómicas y epigenéticas; (4) seguimiento y monitorización de respuesta terapéutica usando ADN tumoral circulante y microARNs. Las tecnologías más empleadas incluyen PCR digital, secuenciación de nueva generación (NGS), FISH y ensayos inmunohistoquímicos.

    Conclusiones: Los biomarcadores moleculares representan herramientas imprescindibles para la oncología de precisión, mejorando diagnóstico, pronóstico y personalización terapéutica. Se requiere estandarización y validación clínica continua para integrar plenamente estas técnicas en la práctica rutinaria.

  • English

    Objective: To review advances in molecular cancer diagnostics using biomarkers and analyze their technical utility in clinical management.

    Methods: Bibliographic review (2010–2025) in PubMed, Scopus and Web of Science, including original articles, systematic reviews and clinical guidelines on molecular oncology biomarkers. Fifty relevant documents were selected for qualitative synthesis.

    Results: Molecular biomarkers enable: (1) early diagnosis through specific mutations and genomic signatures, (2) prognostic stratification using gene expression and proteomic profiles, (3) therapy selection via genomic and epigenetic alterations, (4) treatment monitoring through circulating tumor DNA and microRNAs. Key technologies include digital PCR, next-generation sequencing (NGS), FISH, and immunohistochemistry.

    Conclusions: Molecular biomarkers are essential tools in precision oncology, enhancing diagnosis, prognosis, and therapeutic personalization. Continuous standardization and clinical validation are needed for full integration into routine practice.

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