Liquid biopsy tracking of lung tumor evolutions over time

Alessandro Russo, Diego De Miguel Perez, Muthukumar Gunasekaran, Katherine Scilla, Rena Lapidus, Brandon Cooper, Ranee Mehra, Vincenzo Adamo, Umberto Malapelle, Christian Rolfo*

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

18 Scopus citations


Introduction: The rise of the personalized era in lung cancer prompted the evaluation of novel diagnostic tools to overcome some of the limits of traditional tumor genotyping. Liquid biopsy refers to a multitude of minimally invasive techniques that can allow a real-time biomolecular characterization of the tumor through the analysis of human body fluids. Areas covered: Herein we provide a comprehensive overview of the role of liquid biopsy in lung cancer, mainly focusing on the most studied members of the liquid biopsy family, cell-free DNA (cfDNA) and circulating tumor cells (CTCs). Expert opinion: Among the different components of the large liquid biopsy family, cfDNA is the most studied and widely adopted source for tumor genotyping in lung cancer, already entered clinical practice for detection of both sensitizing and resistance EGFR mutations. However, the impressive technological advances made in the last few years are expanding its potential applications, allowing a more comprehensive plasma genotyping through next-generation sequencing and moving from advanced/metastatic disease to novel frontiers, such as early detection and minimal residual disease evaluation.

Original languageEnglish (US)
Pages (from-to)1099-1108
Number of pages10
JournalExpert Review of Molecular Diagnostics
Issue number12
StatePublished - Dec 2 2019
Externally publishedYes


  • ALK
  • EGFR
  • NGS
  • SCLC
  • bTMB
  • cfDNA
  • circulating tumor cells
  • liquid biopsy
  • real-time PCR

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Molecular Medicine
  • Molecular Biology
  • Genetics

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