How liquid biopsies can change clinical practice in oncology

Ann Oncol. 2019 Oct 1;30(10):1580-1590. doi: 10.1093/annonc/mdz227.

Abstract

Cell-free DNA fragments are shed into the bloodstream by tumor cells. The analysis of circulating tumor DNA (ctDNA), commonly known as liquid biopsy, can be exploited for a variety of clinical applications. ctDNA is being used to genotype solid cancers non-invasively, to track tumor dynamics and to detect the emergence of drug resistance. In a few settings, liquid biopsies have already entered clinical practice. For example, ctDNA is used to guide treatment in a subset of lung cancers. In this review, we discuss how recent improvements in the sensitivity and accuracy of ctDNA analyses have led to unprecedented advances in this research field. We further consider what is required for the routine deployment of liquid biopsies in the clinical diagnostic space. We pinpoint technical hurdles that liquid biopsies have yet to overcome, including preanalytical and analytical challenges. We foresee how liquid biopsies will transform clinical practice: by complementing (or replacing) imaging to monitor treatment response and by detecting minimal residual disease after surgery with curative intent.

Keywords: cancer diagnosis; circulating free DNA; clonal evolution; liquid biopsy; minimal residual disease; resistance.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Biomarkers, Tumor / blood*
  • Biomarkers, Tumor / genetics
  • Circulating Tumor DNA / blood*
  • Circulating Tumor DNA / genetics
  • Clinical Decision-Making*
  • DNA, Neoplasm / blood*
  • DNA, Neoplasm / genetics
  • Humans
  • Liquid Biopsy / methods*
  • Neoplasms / blood
  • Neoplasms / diagnosis*
  • Neoplasms / genetics
  • Practice Patterns, Physicians' / statistics & numerical data*
  • Precision Medicine
  • Prognosis

Substances

  • Biomarkers, Tumor
  • Circulating Tumor DNA
  • DNA, Neoplasm