Circulating tumor DNA-From bench to bedside

Curr Probl Cancer. 2017 May-Jun;41(3):212-221. doi: 10.1016/j.currproblcancer.2017.02.005. Epub 2017 Mar 1.

Abstract

In the era of personalized medicine, tumor sampling is paramount to enable the assessment of actionable molecular aberrations to help rationalize and guide treatment decisions. Longitudinal tracking of such aberrations may also be helpful to detect emerging drug resistance and to allow for timely modifications to ongoing therapies to improve patient outcomes. Nevertheless, tumor tissue sampling involves an invasive procedure with potential risks to patients and involves logistical challenges. As such, other less invasive and safer methods such as blood sampling for molecular profiling has been gaining traction. In this article, we discuss the concept of circulating tumor DNA, the technology platforms available for its interrogation, and its current applications in the clinic. We also envision how circulating tumor DNA may be applied at multiple time points along a patient's cancer journey to guide diagnosis, prognostication, and therapeutic decisions.

Keywords: Cancer; Circulating tumor DNA (ctDNA); Liquid biopsy.

MeSH terms

  • Antineoplastic Agents / therapeutic use
  • Biomarkers, Tumor / blood*
  • Biomarkers, Tumor / isolation & purification
  • Biopsy / adverse effects
  • Carcinogenesis / genetics
  • Circulating Tumor DNA / blood*
  • Circulating Tumor DNA / isolation & purification
  • DNA Mutational Analysis / methods
  • Early Detection of Cancer / methods
  • Gene Expression Profiling / methods
  • Gene Expression Profiling / trends
  • Genetic Testing / legislation & jurisprudence
  • Genetic Testing / methods*
  • Genetic Testing / trends
  • High-Throughput Nucleotide Sequencing
  • Humans
  • MicroRNAs / blood
  • Mutation
  • Neoplasms / blood
  • Neoplasms / diagnosis
  • Neoplasms / genetics*
  • Neoplasms / therapy*
  • Polymerase Chain Reaction
  • Precision Medicine / methods*
  • Prognosis
  • Sequence Analysis, DNA / methods
  • United States
  • United States Food and Drug Administration

Substances

  • Antineoplastic Agents
  • Biomarkers, Tumor
  • Circulating Tumor DNA
  • MicroRNAs