Circulating Tumor DNA in Biliary Tract Cancer: Current Evidence and Future Perspectives

Cancer Genomics Proteomics. 2020 Sep-Oct;17(5):441-452. doi: 10.21873/cgp.20203.

Abstract

Peripheral blood of cancer patients "physiologically" presents cells and cellular components deriving from primary or metastatic sites, including circulating tumor cells (CTCs), circulating free DNA (cfDNA) and exosomes containing proteins, lipids and nucleic acids. The term circulating tumor DNA (ctDNA) indicates the part of cfDNA which derives from primary tumors and/or metastatic sites, carrying tumor-specific genetic or epigenetic alterations. Analysis of ctDNA has enormous potential applications in all stages of cancer management, including earlier diagnosis of cancer, identification of driver alterations, monitoring of treatment response and detection of resistance mechanisms. Thus, ctDNA has the potential to profoundly change current clinical practice, by moving from tissue to peripheral blood as a source of information. Herein, we review current literature regarding the potential role for ctDNA in biliary tract cancer (BTC) patients, with a particular focus on state-of-the-art techniques and future perspectives of this highly aggressive disease.

Keywords: Liquid biopsy; biliary tract cancer; cfDNA; cholangiocarcinoma; ctDNA; review.

Publication types

  • Review

MeSH terms

  • Antineoplastic Agents / therapeutic use
  • Biliary Tract Neoplasms / blood
  • Biliary Tract Neoplasms / diagnosis*
  • Biliary Tract Neoplasms / drug therapy
  • Biliary Tract Neoplasms / genetics
  • Biomarkers, Tumor / blood*
  • Biomarkers, Tumor / genetics
  • Circulating Tumor DNA / blood*
  • Circulating Tumor DNA / genetics
  • Drug Resistance, Neoplasm / genetics
  • Humans
  • Review Literature as Topic

Substances

  • Antineoplastic Agents
  • Biomarkers, Tumor
  • Circulating Tumor DNA