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Liquid biopsy represents a transformative tool in precision oncology, enabling minimally invasive, real-time molecular profiling of tumors through the analysis of circulating biomarkers in biofluids. This chapter provides a comprehensive overview of the main analytes—cell-free and circulating tumor DNA (cfDNA/ctDNA), circulating tumor cells (CTCs), extracellular vesicles (EVs), noncoding RNAs, and tumor-educated platelets (TEPs)—and their respective analytical methodologies. It explores the critical pre-analytical, analytical, and post-analytical phases that ensure data accuracy and clinical validity. Clinical applications are discussed across metastatic, neoadjuvant/perioperative, and early detection settings, highlighting the roles of ctDNA in therapy selection, minimal residual disease (MRD) monitoring, and early detection. Finally, the chapter outlines emerging multi-omic, AI-integrated, and decentralized approaches poised to expand the clinical impact of liquid biopsy in personalized cancer care.

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Liquid Biopsy and Circulating Biomarkers

  • 章节

  • 发表日期：

    2026年

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  • Tancredi Didier Bazan Russo,
  • Valerio Gristina,
  • Francesco Pepe,
  • Lorena Incorvaia,
  • Antonio Galvano,
  • Viviana Bazan,
  • Umberto Malapelle,
  • Antonio Giordano,
  • Antonio Russo

摘要

Liquid biopsy represents a transformative tool in precision oncology, enabling minimally invasive, real-time molecular profiling of tumors through the analysis of circulating biomarkers in biofluids. This chapter provides a comprehensive overview of the main analytes—cell-free and circulating tumor DNA (cfDNA/ctDNA), circulating tumor cells (CTCs), extracellular vesicles (EVs), noncoding RNAs, and tumor-educated platelets (TEPs)—and their respective analytical methodologies. It explores the critical pre-analytical, analytical, and post-analytical phases that ensure data accuracy and clinical validity. Clinical applications are discussed across metastatic, neoadjuvant/perioperative, and early detection settings, highlighting the roles of ctDNA in therapy selection, minimal residual disease (MRD) monitoring, and early detection. Finally, the chapter outlines emerging multi-omic, AI-integrated, and decentralized approaches poised to expand the clinical impact of liquid biopsy in personalized cancer care.