Feasibility of cell-free circulating tumor DNA testing for lung cancer

Mariacarmela Santarpia, Niki Karachaliou, Maria González-Cao, Giuseppe Altavilla, Elisa Giovannetti, Rafael Rosell

Research output: Contribution to journalArticleAcademicpeer-review

21 Citations (Scopus)


Tumor tissue genotyping is used routinely for lung cancer to identify specific targetable oncogenic alterations, including EGFR mutations and ALK rearrangements. However, tumor tissue from a single biopsy is often insufficient for molecular testing, may offer a limited evaluation because of tumor heterogeneity and can be difficult to obtain. Cell-free circulating tumor DNA has been widely investigated as a potential surrogate for tissue biopsy for noninvasive assessment of tumor-related genomic alterations. New techniques have improved EGFR mutations detection in ctDNA, thus supporting the use of this liquid biopsy for predicting response to EGFR tyrosine kinase inhibitors (TKIs) and monitoring the emergence of resistance. The serial evaluation of ctDNA during treatment is feasible and can be used to track tumor changes in real time and for a wide range of clinically useful applications.

Original languageEnglish
Pages (from-to)417-30
Number of pages14
JournalBiomarkers in medicine
Issue number4
Publication statusPublished - 2016


  • Biomarkers, Tumor
  • Carcinoma, Non-Small-Cell Lung
  • DNA, Neoplasm
  • Drug Resistance, Neoplasm
  • Humans
  • Journal Article
  • Lung Neoplasms
  • Mutation
  • Protein Kinase Inhibitors
  • Receptor Protein-Tyrosine Kinases
  • Receptor, Epidermal Growth Factor
  • Review

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