Liquid Biopsy

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Liquid biopsy uses body fluids as a source of molecular information about cancer [1-3]. Tumour-derived genetic information can be obtained from many body fluids, including blood, urine, saliva, pleural effusions, and cerebrospinal fluid [4].

The use of liquid biopsy is increasingly advocated as a potential tool for routine molecular analysis [5], although limitations regarding its routine clinical use exist and further development is required [6, 7]. Data are also emerging on its application for the detection of NTRK gene fusions. For instance, a liquid biopsy assay using cell-free circulating tumour DNA (ctDNA) estimated that NTRK1 gene fusions occurred in 0.07% of 4,290 patients with advanced colorectal cancer [8].


  1. Wan JCM, Massie C, Garcia-Corbacho J et al. Liquid biopsies come of age: towards implementation of circulating tumour DNA. Nat Rev Cancer 2017; 17: 223-238.
  2. Hofman P. Liquid Biopsy and Therapeutic Targets: Present and Future Issues in Thoracic Oncology. Cancers (Basel) 2017; 9: pii: E154. doi: 110.3390/cancers9110154.
  3. Arneth B. Update on the types and usage of liquid biopsies in the clinical setting: a systematic review. BMC Cancer 2018; 18: 527.
  4. Siravegna G, Marsoni S, Siena S, Bardelli A. Integrating liquid biopsies into the management of cancer. Nat Rev Clin Oncol 2017; 14: 531-548.
  5. Rolfo C, Mack PC, Scagliotti GV et al. Liquid Biopsy for Advanced Non-Small Cell Lung Cancer (NSCLC): A Statement Paper from the IASLC. J Thorac Oncol 2018; 13: 1248-1268.
  6. Merker JD, Oxnard GR, Compton C et al. Circulating Tumor DNA Analysis in Patients With Cancer: American Society of Clinical Oncology and College of American Pathologists Joint Review. J Clin Oncol 2018; 36: 1631-1641.
  7. Rossi G, Ignatiadis M. Promises and Pitfalls of Using Liquid Biopsy for Precision Medicine. Cancer Res 2019; 79: 2798-2804.
  8. Clifton K, Raymond VM, Dasari A et al. Actionable fusions in colorectal cancer using a cell-free circulating tumor DNA (ctDNA) assay. Journal of Clinical Oncology 2018; 36: 3507-3507.

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Last update: 24 June 2019