Liquid Biopsy: A Distinctive Approach to the Diagnosis and Prognosis of Cancer

Overview

Journal Cancer Inform

Publisher Sage Publications

Specialty Biomedical Engineering

Date 2022 Feb 14

PMID 35153470

Authors

Tetsuyuki Hirahata

Reeshan Ul Quraish

Afraz Ul Quraish

Shahan Ul Quraish

Munazzah Naz

Mohammad Abdul Razzaq

Affiliations

Soon will be listed here.

Abstract

Cancer is a leading cause of morbidity and mortality worldwide. Over the past decades, the concept of precision cancer medicine has emerged as a novel approach in the field of oncology that aims to tailor the most effective treatment options to each individual cancer patient based on the genetic profile of the tumor of each individual patient. Recently, tissue biopsy has become an essential part of cancer care and is widely used to characterize the tumor. However, tissue biopsy techniques face different challenges due to their invasiveness, cost, time, and adversity in potential sampling due to tissue heterogeneity. To overcome these issues, a non-invasive approach has developed, which is known as liquid biopsy. It is a simple, fast, and worthwhile technique based on the analysis of circulating tumor DNA (which is a fraction of cfDNA), circulating tumor cells (CTCs), and other tumor-derived material in blood plasma. This review provides an overview of the concept of liquid biopsy and briefly discusses the role of ctDNA and CTC analysis as tools for early diagnosis and prognosis of cancer. In this review, we also speculate on the advantages of liquid biopsy as opposed to tissue biopsy and postulate that liquid biopsy may be a comprehensive approach to overcome the current limitations associated with costly, invasive, and time-consuming tissue biopsy.

Citing Articles

Liquid-Based Diagnostic Panels for Prostate Cancer: The Synergistic Role of Soluble PD-L1, PD-1, and mRNA Biomarkers.

Zvirble M, Vaicekauskaite I, Survila Z, Bosas P, Dobrovolskiene N, Mlynska A Int J Mol Sci. 2025; 26(2).

PMID: 39859417 PMC: 11765789. DOI: 10.3390/ijms26020704.

T-cell Receptor Repertoire Analysis in the Context of Transarterial Chemoembolization Synergy with Systemic Therapy for Hepatocellular Carcinoma.

Li J, Zhang Y, Hu L, Ye H, Yan X, Li X J Clin Transl Hepatol. 2025; 13(1):69-83.

PMID: 39801788 PMC: 11712086. DOI: 10.14218/JCTH.2024.00238.

Diagnostics and Therapy for Malignant Tumors.

Tsai C, Wang C, Chang H, Chang P, Chang C, Chu T Biomedicines. 2025; 12(12.

PMID: 39767566 PMC: 11726849. DOI: 10.3390/biomedicines12122659.

Liquid Biopsy in the Clinical Management of Cancers.

Ho H, Chung K, Kan C, Wong S Int J Mol Sci. 2024; 25(16).

PMID: 39201281 PMC: 11354853. DOI: 10.3390/ijms25168594.

Point of Care Liquid Biopsy for Cancer Treatment-Early Experience from a Community Center.

Nicholas C, Beharry A, Bendzsak A, Bisson K, Dadson K, Dudani S Cancers (Basel). 2024; 16(14).

PMID: 39061145 PMC: 11274424. DOI: 10.3390/cancers16142505.

References

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

Wang L, Zhou S, Zhang W, Wang J, Wang M, Hu X . Circulating tumor cells as an independent prognostic factor in advanced colorectal cancer: a retrospective study in 121 patients. Int J Colorectal Dis. 2019; 34(4):589-597. DOI: 10.1007/s00384-018-03223-9. View

Siravegna G, Mussolin B, Buscarino M, Corti G, Cassingena A, Crisafulli G . Clonal evolution and resistance to EGFR blockade in the blood of colorectal cancer patients. Nat Med. 2015; 21(7):827. DOI: 10.1038/nm0715-827b. View

Reimers N, Pantel K . Liquid biopsy: novel technologies and clinical applications. Clin Chem Lab Med. 2018; 57(3):312-316. DOI: 10.1515/cclm-2018-0610. View

Forshew T, Murtaza M, Parkinson C, Gale D, Tsui D, Kaper F . Noninvasive identification and monitoring of cancer mutations by targeted deep sequencing of plasma DNA. Sci Transl Med. 2012; 4(136):136ra68. DOI: 10.1126/scitranslmed.3003726. View

Cristofanilli M, Budd G, Ellis M, Stopeck A, Matera J, Miller M . Circulating tumor cells, disease progression, and survival in metastatic breast cancer. N Engl J Med. 2004; 351(8):781-91. DOI: 10.1056/NEJMoa040766. View

Aceto N, Bardia A, Miyamoto D, Donaldson M, Wittner B, Spencer J . Circulating tumor cell clusters are oligoclonal precursors of breast cancer metastasis. Cell. 2014; 158(5):1110-1122. PMC: 4149753. DOI: 10.1016/j.cell.2014.07.013. View

Sharma P, Hu-Lieskovan S, Wargo J, Ribas A . Primary, Adaptive, and Acquired Resistance to Cancer Immunotherapy. Cell. 2017; 168(4):707-723. PMC: 5391692. DOI: 10.1016/j.cell.2017.01.017. View

Hodson R . Precision medicine. Nature. 2016; 537(7619):S49. DOI: 10.1038/537S49a. View

10.

De Rubis G, Rajeev Krishnan S, Bebawy M . Liquid Biopsies in Cancer Diagnosis, Monitoring, and Prognosis. Trends Pharmacol Sci. 2019; 40(3):172-186. DOI: 10.1016/j.tips.2019.01.006. View

11.

De Mattos-Arruda L, Mayor R, Ng C, Weigelt B, Martinez-Ricarte F, Torrejon D . Cerebrospinal fluid-derived circulating tumour DNA better represents the genomic alterations of brain tumours than plasma. Nat Commun. 2015; 6:8839. PMC: 5426516. DOI: 10.1038/ncomms9839. View

12.

Dawson S, Tsui D, Murtaza M, Biggs H, Rueda O, Chin S . Analysis of circulating tumor DNA to monitor metastatic breast cancer. N Engl J Med. 2013; 368(13):1199-209. DOI: 10.1056/NEJMoa1213261. View

13.

Hong B, Zu Y . Detecting circulating tumor cells: current challenges and new trends. Theranostics. 2013; 3(6):377-94. PMC: 3677409. DOI: 10.7150/thno.5195. View

14.

Bidard F, Michiels S, Riethdorf S, Mueller V, Esserman L, Lucci A . Circulating Tumor Cells in Breast Cancer Patients Treated by Neoadjuvant Chemotherapy: A Meta-analysis. J Natl Cancer Inst. 2018; 110(6):560-567. DOI: 10.1093/jnci/djy018. View

15.

Allard W, Matera J, Miller M, Repollet M, Connelly M, Rao C . Tumor cells circulate in the peripheral blood of all major carcinomas but not in healthy subjects or patients with nonmalignant diseases. Clin Cancer Res. 2004; 10(20):6897-904. DOI: 10.1158/1078-0432.CCR-04-0378. View

16.

Goodman L, Wintrobe M . Nitrogen mustard therapy; use of methyl-bis (beta-chloroethyl) amine hydrochloride and tris (beta-chloroethyl) amine hydrochloride for Hodgkin's disease, lymphosarcoma, leukemia and certain allied and miscellaneous disorders. J Am Med Assoc. 2010; 132:126-32. DOI: 10.1001/jama.1946.02870380008004. View

17.

Cohen J, Javed A, Thoburn C, Wong F, Tie J, Gibbs P . Combined circulating tumor DNA and protein biomarker-based liquid biopsy for the earlier detection of pancreatic cancers. Proc Natl Acad Sci U S A. 2017; 114(38):10202-10207. PMC: 5617273. DOI: 10.1073/pnas.1704961114. View

18.

Garcia-Murillas I, Schiavon G, Weigelt B, Ng C, Hrebien S, Cutts R . Mutation tracking in circulating tumor DNA predicts relapse in early breast cancer. Sci Transl Med. 2015; 7(302):302ra133. DOI: 10.1126/scitranslmed.aab0021. View

19.

Palmirotta R, Lovero D, Cafforio P, Felici C, Mannavola F, Pelle E . Liquid biopsy of cancer: a multimodal diagnostic tool in clinical oncology. Ther Adv Med Oncol. 2018; 10:1758835918794630. PMC: 6116068. DOI: 10.1177/1758835918794630. View

20.

Balgkouranidou I, Chimonidou M, Milaki G, Tsarouxa E, Kakolyris S, Welch D . Breast cancer metastasis suppressor-1 promoter methylation in cell-free DNA provides prognostic information in non-small cell lung cancer. Br J Cancer. 2014; 110(8):2054-62. PMC: 3992488. DOI: 10.1038/bjc.2014.104. View