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Detection of Predictive Biomarkers Using Liquid Biopsies

  • Andrew A. Davis
  • Massimo Cristofanilli
Chapter

Abstract

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.

Keywords

CTC ctDNA Liquid biopsies Precision medicine Biomarkers Next-generation sequencing 

Abbreviations

BEAMing

Beads, emulsions, amplification, and magnetics

CEA

Carcinoembryonic antigen

CTC

Circulating tumor cell

ctDNA

Circulating tumor DNA

ddPCR

Digital droplet PCR

EGFR

Epidermal growth factor receptor

EMT

Epithelial-mesenchymal transition

EpCAM

Epithelial cell adhesion molecule

ESR1

Estrogen receptor 1

FDA

Food and Drug Administration

FISH

Fluorescent in situ hybridization

HR

Hormone receptor

IBC

Inflammatory breast cancer

MAF

Mutant allele frequency

NGS

Next-generation sequencing

NSCLC

Non-small cell lung cancer

OS

Overall survival

PD-1

Programmed cell death-1 protein receptor

PD-L1

Programmed cell death-1 protein ligand

PFS

Progression-free survival

PSA

Prostate-specific antigen

SCLC

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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