The Emerging Role of "Liquid Biopsies," Circulating Tumor Cells, and Circulating Cell-Free Tumor DNA in Lung Cancer Diagnosis and Identification of Resistance Mutations

Curr Oncol Rep. 2017 Jan;19(1):1. doi: 10.1007/s11912-017-0564-y.


Therapeutic advances in the treatment of lung cancer are in part due to a more complete understanding of its genomic portrait. The serial monitoring of tumor genotypes, which are instable and prone to changes under selective pressure, is becoming increasingly needed. Although tumor biopsies remain the reference standard for the diagnosis and genotyping of lung cancer, they are invasive and not always feasible. The "liquid biopsies" have the potential to overcome many of these hurdles, allowing a rapid and accurate identification of de novo and resistant genetic alterations and a real-time monitoring of treatment responses. In this review, we provide insights into new liquid diagnostic platforms and discuss the role of circulating tumor cells and circulating tumor DNA in the diagnosis and identification of resistance mutations in lung cancer.

Keywords: Circulating tumor DNA; Circulating tumor cell; Disease monitoring; Early detection; Intra-tumor heterogeneity; Liquid biopsy; Molecular resistance.

Publication types

  • Review

MeSH terms

  • Biopsy
  • DNA, Neoplasm / blood*
  • DNA, Neoplasm / genetics
  • Drug Resistance, Neoplasm / genetics
  • Humans
  • Lung Neoplasms / blood*
  • Lung Neoplasms / drug therapy
  • Lung Neoplasms / genetics
  • Lung Neoplasms / pathology
  • Mutation
  • Neoplastic Cells, Circulating*


  • DNA, Neoplasm