Beyond DNA Mutations in Liquid Biopsy: From a Primarily Genotypic Tool to a Functional Plasma Biomarker

نویسندگان
doi
چکیده

Liquid biopsy is considered an innovative revolutionary technology in precision medicine and offers non-invasive and real-time molecular profiling of individual patients. Over the past decade, the analysis of circulating tumor DNA (ctDNA) has become nearly synonymous with the term of "liquid biopsy". The discovery of somatic mutations, copy number variations, and epigenetic signatures in cell-free(cf)DNA from peripheral blood has revolutionized oncological diagnostics enabling genotyping from a simple venipuncture, tracking of clonal evolution, and detection of minimal residual disease with remarkable sensitivity. Yet a conceptual limitation has quietly accompanied these remarkable progresses. Most current liquid biopsy methods answer one essential question: What genetic alterations are present? However, they do not directly answer a question equally central to clinical pathophysiology: What is the disease actively doing in real time?