Advancements in Precision Oncology: Investigating the Function of Circulating DNA in the Advancement of Liquid Biopsy Technologies

Overview

Journal J Liq Biopsy

Date 2025 Mar 3

PMID 40027946

Authors

Stootee Baruah

Jenifer Rajak

Arup Kumar Mitra

Bikram Dhara

Affiliations

Soon will be listed here.

Abstract

While the traditional method is a biopsy of the potential tumor tissue, more non-invasive methods have been developed such as the liquid biopsy. It is an emerging, powerful cancer detection method that is used for molecular profiling of tumours apart from tissue-specific biopsy. It involves the analysis of free, circulating tumor genetic material and circulating tumor cells (CTCs) that are found in the fluids of the patient. This analysis helps to detect the abnormal genetic anomalies associated with the various forms of cancer as well as identify mutations corresponding to specific tumours. It is an upcoming method of diagnostics applied in the field of precision oncology that helps overcome the limitations of the traditional biopsy. It can interrogate and look through difficult-to-biopsy tumours and also aid in early cancer detection. Sequencing techniques help in building databases with different information on mutations in the genetic as well as epigenetic levels. In this review, we understand the role of liquid biopsy as not only a diagnostic tool but its role in therapeutics and its potential in the future.

References

Kim S, Jeong S, Lee W, Jeon Y, Kim Y, Park S . Cancer signature ensemble integrating cfDNA methylation, copy number, and fragmentation facilitates multi-cancer early detection. Exp Mol Med. 2023; 55(11):2445-2460. PMC: 10689759. DOI: 10.1038/s12276-023-01119-5. View

Cheung A, Chow C, To K . Latest development of liquid biopsy. J Thorac Dis. 2018; 10(Suppl 14):S1645-S1651. PMC: 6035915. DOI: 10.21037/jtd.2018.04.68. View

Mino-Kenudson M . Cons: Can liquid biopsy replace tissue biopsy?-the US experience. Transl Lung Cancer Res. 2016; 5(4):424-7. PMC: 5009080. DOI: 10.21037/tlcr.2016.08.01. View

Kim M, Oskarsson T, Acharyya S, Nguyen D, Zhang X, Norton L . Tumor self-seeding by circulating cancer cells. Cell. 2010; 139(7):1315-26. PMC: 2810531. DOI: 10.1016/j.cell.2009.11.025. View

Palmisani F, Kovar H, Kager L, Amann G, Metzelder M, Bergmann M . Systematic review of the immunological landscape of Wilms tumors. Mol Ther Oncolytics. 2021; 22:454-467. PMC: 8430048. DOI: 10.1016/j.omto.2021.06.016. View

Foda Z, Annapragada A, Boyapati K, Bruhm D, Vulpescu N, Medina J . Detecting Liver Cancer Using Cell-Free DNA Fragmentomes. Cancer Discov. 2022; 13(3):616-631. PMC: 9975663. DOI: 10.1158/2159-8290.CD-22-0659. View

Li W, Liu J, Hou L, Yu F, Zhang J, Wu W . Liquid biopsy in lung cancer: significance in diagnostics, prediction, and treatment monitoring. Mol Cancer. 2022; 21(1):25. PMC: 8772097. DOI: 10.1186/s12943-022-01505-z. View

Pantel K, Alix-Panabieres C . Liquid biopsy and minimal residual disease - latest advances and implications for cure. Nat Rev Clin Oncol. 2019; 16(7):409-424. DOI: 10.1038/s41571-019-0187-3. View

Freitas A, Causin R, Varuzza M, Calfa S, Hidalgo Filho C, Komoto T . Liquid Biopsy as a Tool for the Diagnosis, Treatment, and Monitoring of Breast Cancer. Int J Mol Sci. 2022; 23(17). PMC: 9456236. DOI: 10.3390/ijms23179952. View

10.

Pinzani P, DArgenio V, Del Re M, Pellegrini C, Cucchiara F, Salvianti F . Updates on liquid biopsy: current trends and future perspectives for clinical application in solid tumors. Clin Chem Lab Med. 2021; 59(7):1181-1200. DOI: 10.1515/cclm-2020-1685. View

11.

Schwaederle M, Chattopadhyay R, Kato S, Fanta P, Banks K, Choi I . Genomic Alterations in Circulating Tumor DNA from Diverse Cancer Patients Identified by Next-Generation Sequencing. Cancer Res. 2017; 77(19):5419-5427. PMC: 5626633. DOI: 10.1158/0008-5472.CAN-17-0885. View

12.

Liebs S, Eder T, Klauschen F, Schutte M, Yaspo M, Keilholz U . Applicability of liquid biopsies to represent the mutational profile of tumor tissue from different cancer entities. Oncogene. 2021; 40(33):5204-5212. PMC: 8376638. DOI: 10.1038/s41388-021-01928-w. View

13.

Goodman A, Holden K, Jeong A, Kim L, Fitzgerald K, Almasri E . Assessing CAR T-Cell Therapy Response Using Genome-Wide Sequencing of Cell-Free DNA in Patients With B-Cell Lymphomas. Transplant Cell Ther. 2021; 28(1):30.e1-30.e7. DOI: 10.1016/j.jtct.2021.10.007. View

14.

Gao Q, Lin Y, Li B, Wang G, Dong L, Shen B . Unintrusive multi-cancer detection by circulating cell-free DNA methylation sequencing (THUNDER): development and independent validation studies. Ann Oncol. 2023; 34(5):486-495. DOI: 10.1016/j.annonc.2023.02.010. View

15.

Tivey A, Church M, Rothwell D, Dive C, Cook N . Circulating tumour DNA - looking beyond the blood. Nat Rev Clin Oncol. 2022; 19(9):600-612. PMC: 9341152. DOI: 10.1038/s41571-022-00660-y. View

16.

Wu Y, Park K, Deighan C, Amaya P, Miller B, Pan Q . Multiparameter Evaluation of the Heterogeneity of Circulating Tumor Cells Using Integrated RNA Hybridization and Immunocytochemical Analysis. Front Oncol. 2016; 6:234. PMC: 5099140. DOI: 10.3389/fonc.2016.00234. View

17.

Baca S, Seo J, Davidsohn M, Fortunato B, Semaan K, Sotudian S . Liquid biopsy epigenomic profiling for cancer subtyping. Nat Med. 2023; 29(11):2737-2741. PMC: 10695830. DOI: 10.1038/s41591-023-02605-z. View

18.

Wong S, Li J, Tan A, Vedururu R, Pang J, Do H . Sequence artefacts in a prospective series of formalin-fixed tumours tested for mutations in hotspot regions by massively parallel sequencing. BMC Med Genomics. 2014; 7:23. PMC: 4032349. DOI: 10.1186/1755-8794-7-23. View

19.

Gerlinger M, Rowan A, Horswell S, Math M, Larkin J, Endesfelder D . Intratumor heterogeneity and branched evolution revealed by multiregion sequencing. N Engl J Med. 2012; 366(10):883-892. PMC: 4878653. DOI: 10.1056/NEJMoa1113205. View

20.

Cooper R, Wright J, Ng J, Goyne J, Suzuki N, Lee Y . Engineered bacteria detect tumor DNA. Science. 2023; 381(6658):682-686. PMC: 10852993. DOI: 10.1126/science.adf3974. View