Liquid Biopsy

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Overview

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]. Technological advances in genetic sequencing of cell-free/ circulating tumour DNA (cfDNA / ctDNA) have enabled liquid biopsies, especially using blood, as it represents dynamic changes of the tumour over time, but especially after treatment. Liquid biopsy allows assessment of abnormalities in ctDNA providing a picture of the clonal genetic composition of the tumour and information to monitor response to treatment, predict relapse, and stratify treatment in an active fashion [5].

The use of liquid biopsy is increasingly advocated as a potential tool for routine molecular analysis, although some limitations regarding its routine clinical use exist [5-8]. The use of liquid biopsies in detection of NTRK gene fusions in ctDNA is now established. For instance, analysis of cell-free circulating tumour DNA (ctDNA) estimated that NTRK1 gene fusions occurred in 0.07% of 4,290 patients with advanced colorectal cancer [9]. Retrospective analysis of a ctDNA database in advanced solid tumours revealed NTRK1 fusion events, with nine unique fusion partners, in 37 patients and importantly the NTRK1 fusion detected by ctDNA was confirmed in tissue in 88% of cases [10].

References

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. Pascual J, Attard G, Bidard FC et al. ESMO recommendations on the use of circulating tumour DNA assays for patients with cancer: a report from the ESMO Precision Medicine Working Group. Ann Oncol. 2022 Jun 9:S0923-7534(22)01721-5.

7. 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.
8. Rossi G, Ignatiadis M. Promises and Pitfalls of Using Liquid Biopsy for Precision Medicine. Cancer Res 2019; 79: 2798-2804.
9. 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.
10. Rolfo, C., Drilon, A., Hong, D et al. NTRK1 Fusions identified by non-invasive plasma next-generation sequencing (NGS) across 9 cancer types. Br J Cancer 2022; 126, 514–520.