Liquid biopsy: the current state of the issue
https://doi.org/10.35401/2500-0268-2021-23-3-57-63
Abstract
Background Liquid biopsy is a promising method of diagnosing malignant tumors. It allows determining the level of free circulating tumor cells – micrometastases, tumor DNA, microRNA and exosomes in blood plasma, as well as detecting various genetic changes. This work included a literature review of current scientific publications on liquid biopsy techniques indexed in PubMed.
Objective The aim of the study was to evaluate the efficacy and peculiarities of this technique in comparison with standard methods of morphological verification of oncological diseases, as well as the feasibility of its use in clinical practice. Compared to tissue biopsy LB has the following advantages: simplicity and speed of examination, easy repeatability and low invasiveness, possibility of dynamic monitoring of tumor progression – general clonal transformation as well as the appearance of resistance to treatment. The disadvantages of this method include low sensitivity, difficulty in proper interpretation of biomarkers and determination of their specificity, high risk of false positive and false negative results due to the presence of dormant tumor cells.
Conclusion Currently, liquid biopsy analysis in clinical practice requires standardization and continuous validation.
About the Authors
E. A. PasechnikovaRussian Federation
Elizaveta A. Pasechnikova, Postgraduate Student of the Department of Oncology with a Course of Thoracic Surgery, Faculty of Advanced Training and Professional Retraining of Specialists
4, M. Sedina str, Krasnodar, 350063
V. N. Bodnya
Russian Federation
Vadim N. Bodnya, Dr. of Sci. (Med.), Oncologist, Research Institute – Ochapovsky Regional Hospital no. 1, Associate Professor of the Department of Oncology with a Course of Thoracic Surgery, Kuban State Medical University
Krasnodar
S. V. Sharov
Russian Federation
Sergey V. Sharov, Cand. of Sci. (Med.), Deputy Chief Physician for Pharmaceutical Provision
Krasnodar
D. V. Kadomtsev
Russian Federation
Dmitry V. Kadomtsev, Oncologist
Krasnodar
A. Y. Georgieva
Russian Federation
Anastasiya Y. Georgieva, Postgraduate Student of the Department of Oncology with a Course of Thoracic Surgery
Krasnodar
A. I. Stukan
Russian Federation
Anastasiya I. Stukan, Cand. of Sci. (Med.), Oncologist
Krasnodar
References
1. Savostikova MV, Sokolova VK, Kudaibergenova AG, Furminskaya EY, Fedoseeva ES. Сytomorphological diagnosis of breast cancer. Oncogynecology. 2015;1:22–33. (In Russ.)
2. Zakharenko AA, Zaitsev DA, Belyaev MA, Trushin AA, Ten OA, Natkha AS. Possibilities of liquid biopsy in gastric cancer. Questions of oncology. 2016;62(4):379–385. (In Russ.)
3. Alix-Panabières C, Pantel K. Clinical applications of circulating tumor cells and circulating tumor DNA as liquid biopsy. Cancer discovery. 2016;6(5):479–491. PMID: 26969689. https://doi.org/10.1158/2159-8290.CD-15-1483
4. An T, Qin S, Xu Y, Tang Y, et al. Exosomes serve as tumour markers for personalized diagnostics owing to their important role in cancer metastasis. Journal of extracellular vesicles. 2015;4:27522. PMID: 26095380. PMCID: PMC4475684. https://doi.org/10.3402/jev.v4.27522
5. Elshimali YI, Khaddour H, Sarkissyan M, Wu Y, Vadgama JV. The clinical utilization of circulating cell free DNA (CCFDNA) in blood of cancer patients. Int J Mol Sci. 2013;14(9):18925–18958. PMID: 24065096. PMCID: PMC3794814. https://doi.org/10.3390/ijms140918925
6. Baldacchino S, Grech G. Somatic copy number aberrations in metastatic patients: the promise of liquid biopsies. Semin Cancer Biol. 2020;60:302–310. PMID: 31891778. https://doi.org/10.1016/j.semcancer.2019.12.014
7. Janni WJ, Rack B, Terstappen LW, Pierga J-Y, et al. Pooled analysis of the prognostic relevance of circulating tumor cells in primary breast cancer. Clin Cancer Res. 2016;22(10):2583–2593. PMID: 26733614. https://doi.org/10.1158/1078-0432.CCR-15-1603
8. Antonarakis ES, Lu C, Wang H, et al. AR-V7 and resistance to enzalutamide and abiraterone in prostate cancer. N Engl J Med. 2014;371(11):1028–1038. PMID: 25184630. PMCID: PMC4201502. https://doi.org/10.1056/NEJMoa1315815
9. Taniguchi K, Uchida J, Nishino K, et al. Quantitative detection of EGFR mutations in circulating tumor DNA derived from lung adenocarcinomas. Clin Cancer Res. 2011;17(24):7808– 7815. PMID: 21976538. https://doi.org/10.1158/1078-0432.CCR11-1712
10. Siravegna G, Bardelli A. Blood circulating tumor DNA for non-invasive genotyping of colon cancer patients. Molecular oncology. 2016;10(3):475–480. PMID: 26774880. PMCID: PMC5528968. https://doi.org/10.1016/j.molonc.2015.12.005
11. De Mattos-Arruda L, Caldas C. Cell-free circulating tumour DNA as a liquid biopsy in breast cancer. Molecular oncology. 2016;10(3):464–474. PMID: 26776681. PMCID: PMC5528975. https://doi.org/10.1016/j.molonc.2015.12.001
12. Riaz IB, Wang L, Kohli M. Liquid biopsy approach in the management of prostate cancer. Transl Res. 2018;201:60– 70. PMID: 29936077. PMCID: PMC6631037. https://doi.org/10.1016/j.trsl.2018.05.004
13. Gaiser MR, von Bubnoff N, Gebhardt C, et al. Liquid biopsy to monitor melanoma patients. J Dtsch Dermatol Ges. 2018;16(4):405–414. PMID: 29512873. https://doi.org/10.1111/ddg.13461
14. Sakuma Y, Fujii K, Han J, Takahashi R-U. Recent advances in liquid biopsy based on circulating tumor DNA. Journal of clinical medicine. 2019;8(11):1957. PMID: 31766189. PMCID: PMC6912642. https://doi.org/10.3390/jcm8111957
15. Seremet T, Jansen Y, Planken S, et al. Undetectable circulating tumor DNA (ctDNA) levels correlate with favorable outcome in metastatic melanoma patients treated with anti-PD1 therapy. J Transl Med. 2019;17(1):303. PMID: 31488153. PMCID: PMC6727487. https://doi.org/10.1186/s12967-019-2051-8
16. Dal Maso A, Lorenzi M, Roca E, et al. Clinical features and progression pattern of acquired T790M-positive compared with T790M-negative EGFR mutant non-small-cell lung cancer: catching tumor and clinical heterogeneity over time through liquid biopsy. Clin Lung Cancer. 2020;21(1):1–14.e3. PMID: 31601525. https://doi.org/10.1016/j.cllc.2019.07.009
17. Rolfo C, Mack PC, Scagliotti GV, et al. Liquid biopsy for advanced non-small cell lung cancer (NSCLC): a statement paper from the IASLC. Journal of thoracic oncology. 2018;13(9):1248– 1268. PMID: 29885479. https://doi.org/10.1016/j.jtho.2018.05.030
18. Thompson JC, Yee SS, Troxel AB, et al. Detection of therapeutically targetable driver and resistance mutations in lung cancer patients by next-generation sequencing of cell-free circulating tumor DNA. Clin Cancer Res. 2016;22(23):5772– 5782. PMID: 27601595. PMCID: PMC5448134. https://doi.org/10.1158/1078-0432.CCR-16-1231
19. Tamminga M, de Wit S, Schuuring E, et al. Circulating tumor cells in lung cancer are prognostic and predictive for worse tumor response in both targeted- and chemotherapy. Transl Lung Cancer Res. 2019;8(6):854–861. PMID: 32010564. PMCID: PMC6976367. https://doi.org/10.21037/tlcr.2019.11.06
20. Diehl F, Schmidt K, Choti MA, et al. Circulating mutant DNA to assess tumor dynamics. Nature medicine. 2008;14(9):985– 990. PMID: 18670422. PMCID: PMC2820391. https://doi.org/10.1038/nm.1789
21. Tsao SC, Weiss J, Hudson C, et al. Monitoring response to therapy in melanoma by quantifying circulating tumour DNA with droplet digital PCR for BRAF and NRAS mutations. Scientific reports. 2015;5:11198. PMID: 26095797. PMCID: PMC4476039. https://doi.org/10.1038/srep11198
22. Girotti MR, Gremel G, Lee R, et al. Application of sequencing, liquid biopsies, and patient-derived xenografts for personalizedmedicineinmelanoma. Cancer Discov.2016;6(3):286– 299. PMID: 26715644. https://doi.org/10.1158/2159-8290.CD15-1336
23. Gray ES, Rizos H, Reid AL, et al. Circulating tumor DNA to monitor treatment response and detect acquired resistance in patients with metastatic melanoma. Oncotarget. 2015;6(39):42008–42018. PMID: 26524482. PMCID: 4747205. https://doi.org/10.18632/oncotarget.5788
24. Nonaka T, Wong D. Liquid Biopsy in Head and Neck Cancer: Promises and Challenges. Journal of dental research. 2018;97(6):701–708. https://doi.org/10.1177/0022034518762071
25. Pisapia P, Malapelle U, Troncone G. Liquid biopsy and lung cancer. Acta cytological. 2019;63(6):489–496. PMID: 30566947. https://doi.org/10.1159/000492710
26. Vidal J, Taus A, Montagut C. Dynamic treatment stratification using ctDNA. Recent Results Cancer Res. 2020;215:263–273. PMID: 31605234. https://doi.org/10.1007/978-3-030-26439-0_14
27. Haber DA, Velculescu VE. Blood-based analyses of cancer: circulating tumor cells and circulating tumor DNA. Cancer discovery. 2014;4(6):650–661. PMID: 24801577. PMCID: PMC4433544. https://doi.org/10.1158/2159-8290.CD-13-1014
28. Gerlinger M, Rowan AJ, Horswell S, et al. Intratumor heterogeneity and branched evolution revealed by multiregion sequencing. N Engl J Med. 2012;366(10):883–892. PMID: 22397650. PMCID: PMC4878653. https://doi.org/10.1056/NEJMoa1113205
29. Vogelstein B, Papadopoulos N, Velculescu VE, Zhou S, et al. Cancer genome landscapes. Science. 2013;339(6127):1546–58. PMID: 23539594. PMCID: PMC3749880. https://doi.org/10.1126/science.1235122
30. McGranahan N, Swanton C. Biological and therapeutic impact of intratumor heterogeneity in cancer evolution. Cancer Cell. 2015;27(1):15–26. PMID: 25584892. https://doi.org/10.1016/j.ccell.2014.12.001
31. Benoit L, Favoulet P, Collin F, et al. Prélèvements anatomopathologiques en cancérologie: règles de bonnes pratiques au bloc opératoire [Histological and cytopathological cancer specimens: good practice in operating room]. Ann Chir. 2003;128(9):637–641. https://doi.org/10.1016/j.anchir.2003.09.010
32. Reck M, Hagiwara K, Han B, et al. ctDNA Determination of EGFR mutation status in European and Japanese patients with advanced NSCLC: the ASSESS study. J Thorac Oncol. 2016;11(10):1682–1689. PMID: 27468938. https://doi.org/10.1016/j.jtho.2016.05.036
33. Esposito AR, Pasquale R, Sacco A, et al. Liquid biopsy testing can improve selection of advanced non-small-cell lung cancer patients to rechallenge with gefitinib. Cancers (Basel). 2019;11(10):1431. PMID: 31557965. PMCID: PMC6826724. https://doi.org/10.3390/cancers11101431
34. Pinzani P, Salvianti F,Zaccara S, et al.Circulating cell-free DNA in plasma of melanoma patients: qualitative and quantitative considerations. Clin Chim Acta. 2011;412(23–24):2141–5. PMID: 21839068. https://doi.org/10.1016/j.cca.2011.07.027
35. Gangadhar TC, Savitch SL, Yee SS, et al. Feasibility of monitoring advanced melanoma patients using cell-free DNA from plasma. Pigment Cell Melanoma Res. 2018;31(1):73–81. PMID: 28786531. PMCID: PMC5742050. https://doi.org/10.1111/pcmr.12623
36. Mannelli C. Tissue vsliquid biopsiesfor cancer detection: Ethical issues. Journal of bioethical inquiry. 2019;16(4):551–557. PMID: 31729685. https://doi.org/10.1007/s11673-019-09944-y.
37. Sato Y, Matoba R, Kato K. Recent advances in liquid biopsy in precision oncology research. Biol Pharm Bull. 2019;42(3):337–342. PMID: 30828064. https://doi.org/10.1248/bpb.b18-00804
38. 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. Archives of pathology & laboratory medicine. 2018;142(10):1242–1253. https://doi.org/10.5858/arpa.2018-0901-SA
39. Alix-Panabières C, Pantel K. Clinical applications of circulating tumor cells and circulating tumor DNA as liquid biopsy. Cancer discovery. 2016;6(5):479–491. PMID: 26969689. https://doi.org/10.1158/2159-8290.CD-15-1483
40. Eisenhauer EA, Therasse P, Bogaerts J, et al. New response evaluation criteria in solid tumours: revised RECIST guideline (version 1.1). Eur J Cancer. 2009;45(2):228–247. PMID: 19097774. https://doi.org/10.1016/j.ejca.2008.10.026
41. Calapre L, Warburton L, Millward M, et al. Circulating tumour DNA (ctDNA) as a liquid biopsy for melanoma. Cancer letters. 2017;404:62–69. PMID: 28687355. https://doi.org/10.1016/j.canlet.2017.06.030
42. Pantel K, Alix-Panabières C. Bone marrow as a reservoir for disseminated tumor cells: a special source for liquid biopsy in cancer patients. Bonekey Rep. 2014;3:584. PMID: 25419458. PMCID: PMC4238319. https://doi.org/10.1038/bonekey.2014.79
43. Hodgkinson CL, Morrow CJ, Li Y, Metcalf RL, et al. Tumorigenicity and genetic profiling of circulating tumor cells in small-cell lung cancer. Nat Med. 2014;20(8):897–903. PMID: 24880617. https://doi.org/10.1038/nm.3600
Review
For citations:
Pasechnikova E.A., Bodnya V.N., Sharov S.V., Kadomtsev D.V., Georgieva A.Y., Stukan A.I. Liquid biopsy: the current state of the issue. Innovative Medicine of Kuban. 2021;(3):57-63. (In Russ.) https://doi.org/10.35401/2500-0268-2021-23-3-57-63