Detection of Predictive Biomarkers Using Liquid Biopsies

  • Andrew A. Davis
  • Massimo CristofanilliEmail author


Liquid biopsies have emerged as tools to predict response to therapy in real time, detect genomic alterations, and monitor disease resistance and tumor evolution in peripheral blood. The most well-studied components of liquid biopsies include circulating tumor cells (CTCs) and circulating tumor DNA (ctDNA). These highly dynamic biomarkers reflect cellular and genetic information from multiple primary and metastatic sites and are detected after tumors undergo necrosis, apoptosis, or via active secretion mechanisms. CTCs have demonstrated considerable promise as prognostic tools, and early evidence suggests the potential for monitoring micrometastatic disease. ctDNA can serve as a quantitative measure of tumor burden, reflect minimal residual disease, and enable serial monitoring of genomic alterations. Advances in CTC isolation techniques and next-generation sequencing have dramatically improved the detection of these components in blood. Future studies will utilize these assays to understand genetic and functional characteristics of single tumor cells and to explore the potential for liquid biopsies for early cancer detection.


CTC ctDNA Liquid biopsies Precision medicine Biomarkers Next-generation sequencing 



Beads, emulsions, amplification, and magnetics


Carcinoembryonic antigen


Circulating tumor cell


Circulating tumor DNA


Digital droplet PCR


Epidermal growth factor receptor


Epithelial-mesenchymal transition


Epithelial cell adhesion molecule


Estrogen receptor 1


Food and Drug Administration


Fluorescent in situ hybridization


Hormone receptor


Inflammatory breast cancer


Mutant allele frequency


Next-generation sequencing


Non-small cell lung cancer


Overall survival


Programmed cell death-1 protein receptor


Programmed cell death-1 protein ligand


Progression-free survival


Prostate-specific antigen


Small cell lung cancer


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Copyright information

© Springer Nature Switzerland AG 2019

Authors and Affiliations

  1. 1.Department of Medicine-Hematology and OncologyNorthwestern Memorial HospitalChicagoUSA
  2. 2.Department of Medicine-Hematology and Oncology, Robert H Lurie Comprehensive Cancer CenterFeinberg School of MedicineChicagoUSA

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