Evaluating the diagnostic power of liquid biopsy in precision oncology: A narrative review of progress, limitations, and perspectives.
DOI:
https://doi.org/10.51168/sjhrafrica.v7i3.2451Keywords:
liquid biopsy, circulating tumor DNA, circulating tumor cells, cancer diagnostics, cancer, breast cancer, precision oncologyAbstract
In our world today, cancer is one of the most significant challenges to global health, with high morbidity rates. The emergence of liquid biopsy has fundamentally redefined the landscape of precision oncology, transitioning from a theoretical blood-based alternative to an essential clinical tool in precision oncology. where its utility offered a minimally invasive technique in cancer analysis through tumor markers. Liquid biopsy is a minimally invasive procedure used in cancer analysis to detect specific tumor biomarkers, specifically tracing the path of these biomarkers from benchtop discovery to their current status as FDA-cleared companion diagnostics.
The primary objective of the review is to provide a comprehensive synthesis of the technological, clinical, and regulatory evolution of liquid biopsy over the past quarter century, and to synthesize recent evidence regarding its role in early cancer detection and therapy response prediction. This review emphasizes the transformative impact of ctDNA in detecting minimal residual disease (MRD) and monitoring real-time clonal evolution, which has enabled clinicians to pivot therapies before radiographic progression.
However, to transition this technology from a secondary monitoring tool to a primary screening tool, future research must prioritize the standardization of the pre-analytical protocols and multiple trials so that by bridging the gap between high-tech research and global accessibility, liquid biopsy will have the potential to democratize precision medicine and significantly improve survival outcomes on a global scale.
References
Ferlay J, Ervik M, Lam F, Laversanne M, Colombet M, Mery L, Piñeros M, Znaor A, Soerjomataram I, Bray F (2024). Global Cancer Observatory: Cancer Today (version 1.1). Lyon, France: International Agency for Research on Cancer. Available from: https://gco.iarc.who.int/today, accessed [11 February 2026].
The global challenge of cancer. Nat Cancer. 2020 Jan;1(1):1-2. doi: 10.1038/s43018-019-0023-9. PMID: 35121840. Availablr from: https://doi.org/10.1038/s43018-019-0023-9
Lindeman NI, Cagle PT, Beasley MB, Chitale DA, Dacic S, Giaccone G, Jenkins RB, Kwiatkowski DJ, Saldivar JS, Squire J, Thunnissen E, Ladanyi M. Molecular testing guideline for selection of lung cancer patients for EGFR and ALK tyrosine kinase inhibitors: guideline from the College of American Pathologists, International Association for the Study of Lung Cancer, and Association for Molecular Pathology. J Thorac Oncol. 2013 Jul;8(7):823-59. doi: 10.1097/JTO.0b013e318290868f. Erratum in: J Thorac Oncol. 2013 Oct;8(10):1343. PMID: 23552377; PMCID: PMC4159960. Available from: https://doi.org/10.1097/jto.0b013e318290868f
Czernin J, Allen-Auerbach M, Nathanson D, Herrmann K. PET/CT in Oncology: Current Status and Perspectives. Curr Radiol Rep. 2013 May 3;1(3):177-190. doi: 10.1007/s40134-013-0016-x. PMID: 24883234; PMCID: PMC4034170. Available from: https://doi.org/10.1007/s40134-013-0016-x
Overman MJ, Modak J, Kopetz S, Murthy R, Yao JC, Hicks ME, Abbruzzese JL, Tam AL. Use of research biopsies in clinical trials: are risks and benefits adequately discussed? J Clin Oncol. 2013 Jan 1;31(1):17-22. doi: 10.1200/JCO.2012.43.1718. Epub 2012 Nov 5. PMID: 23129736; PMCID: PMC5545102. Available from:
https://doi.org/10.1200/jco.2012.43.1718
Wahl RL, Jacene H, Kasamon Y, Lodge MA. From RECIST to PERCIST: Evolving Considerations for PET response criteria in solid tumors. J Nucl Med. 2009 May;50 Suppl 1(Suppl 1):122S-50S. doi: 10.2967/jnumed.108.057307. PMID: 19403881; PMCID: PMC2755245. Available from: https://doi.org/10.2967/jnumed.108.057307
Heitzer E, Haque IS, Roberts CES, Speicher MR. Current and future perspectives of liquid biopsies in genomics-driven oncology. Nat Rev Genet. 2019 Feb;20(2):71-88. doi: 10.1038/s41576-018-0071-5. PMID: 30410101. Available from:
https://doi.org/10.1038/s41576-018-0071-5
Reinert T, Henriksen TV, Christensen E, Sharma S, Salari R, Sethi H, Knudsen M, Nordentoft I, Wu HT, Tin AS, Heilskov Rasmussen M, Vang S, Shchegrova S, Frydendahl Boll Johansen A, Srinivasan R, Assaf Z, Balcioglu M, Olson A, Dashner S, Hafez D, Navarro S, Goel S, Rabinowitz M, Billings P, Sigurjonsson S, Dyrskjøt L, Swenerton R, Aleshin A, Laurberg S, Husted Madsen A, Kannerup AS, Stribolt K, Palmelund Krag S, Iversen LH, Gotschalck Sunesen K, Lin CJ, Zimmermann BG, Lindbjerg Andersen C. Analysis of Plasma Cell-Free DNA by Ultradeep Sequencing in Patients With Stages I to III Colorectal Cancer. JAMA Oncol. 2019 Aug 1;5(8):1124-1131. doi: 10.1001/jamaoncol.2019.0528. Erratum in: JAMA Oncol. 2019 Aug 1;5(8):1232. doi: 10.1001/jamaoncol.2019.2162. PMID: 31070691; PMCID: PMC6512280. https://doi.org/10.1001/jamaoncol.2019.0528
Zhong R, Gao R, Fu W, Li C, Huo Z, Gao Y, Lu Y, Li F, Ge F, Tu H, You Z, He J, Liang W. Accuracy of minimal residual disease detection by circulating tumor DNA profiling in lung cancer: a meta-analysis. BMC Med. 2023 May 12;21(1):180. doi: 10.1186/s12916-023-02849-z. PMID: 37173789; PMCID: PMC10176776.
https://doi.org/10.1186/s12916-023-02849-z
Siravegna G, Marsoni S, Siena S, Bardelli A. Integrating liquid biopsies into the management of cancer. Nat Rev Clin Oncol. 2017 Sep;14(9):531-548. doi: 10.1038/nrclinonc.2017.14. Epub 2017 Mar 2. PMID: 28252003.
https://doi.org/10.1038/nrclinonc.2017.14
Wan JCM, Massie C, Garcia-Corbacho J, Mouliere F, Brenton JD, Caldas C, Pacey S, Baird R, Rosenfeld N. Liquid biopsies come of age: towards implementation of circulating tumour DNA. Nat Rev Cancer. 2017 Apr;17(4):223-238. doi: 10.1038/nrc.2017.7. Epub 2017 Feb 24. PMID: 28233803. https://doi.org/10.1038/nrc.2017.7
Razavi P, Li BT, Brown DN, Jung B, Hubbell E, Shen R, Abida W, Juluru K, De Bruijn I, Hou C, Venn O, Lim R, Anand A, Maddala T, Gnerre S, Vijaya Satya R, Liu Q, Shen L, Eattock N, Yue J, Blocker AW, Lee M, Sehnert A, Xu H, Hall MP, Santiago-Zayas A, Novotny WF, Isbell JM, Rusch VW, Plitas G, Heerdt AS, Ladanyi M, Hyman DM, Jones DR, Morrow M, Riely GJ, Scher HI, Rudin CM, Robson ME, Diaz LA Jr, Solit DB, Aravanis AM, Reis-Filho JS. High-intensity sequencing reveals the sources of plasma circulating cell-free DNA variants. Nat Med. 2019 Dec;25(12):1928-1937. doi: 10.1038/s41591-019-0652-7. Epub 2019 Nov 25. PMID: 31768066; PMCID: PMC7061455.
https://doi.org/10.1038/s41591-019-0652-7
Diaz LA Jr, Bardelli A. Liquid biopsies: genotyping circulating tumor DNA. J Clin Oncol. 2014 Feb 20;32(6):579-86. doi: 10.1200/JCO.2012.45.2011. Epub 2014 Jan 21. PMID: 24449238; PMCID: PMC4820760.
https://ascopubs.org/doi/10.1200/JCO.2012.45.2011
Ohmura H, Hanamura F, Okumura Y, Ando Y, Masuda T, Mimori K, Akashi K, Baba E. Liquid biopsy for breast cancer and other solid tumors: a review of recent advances. Breast Cancer. 2025 Jan;32(1):33-42. doi: 10.1007/s12282-024-01556-8. Epub 2024 Mar 16. PMID: 38492205. https://doi.org/10.1007/s12282-024-01556-8
Cai J, Wang W, Zhang W. A meta-analysis of liquid biopsy versus tumor histology for detecting EGFR mutations in non-small cell lung cancer. Transl Oncol. 2024 Sep;47:102022. doi: 10.1016/j.tranon.2024.102022. Epub 2024 Jul 2. PMID: 38959710; PMCID: PMC11269823. https://doi.org/10.1016/j.tranon.2024.102022
Pascual J, Attard G, Bidard FC, Curigliano G, De Mattos-Arruda L, Diehn M, Italiano A, Lindberg J, Merker JD, Montagut C, Normanno N, Pantel K, Pentheroudakis G, Popat S, Reis-Filho JS, Tie J, Seoane J, Tarazona N, Yoshino T, Turner NC. 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 Aug;33(8):750-768. doi: 10.1016/j.annonc.2022.05.520. Epub 2022 Jul 6. PMID: 35809752. https://doi.org/10.1016/j.annonc.2022.05.520
André F, Ciruelos E, Rubovszky G, Campone M, Loibl S, Rugo HS, Iwata H, Conte P, Mayer IA, Kaufman B, Yamashita T, Lu YS, Inoue K, Takahashi M, Pápai Z, Longin AS, Mills D, Wilke C, Hirawat S, Juric D; SOLAR-1 Study Group. Alpelisib for PIK3CA-Mutated, Hormone Receptor-Positive Advanced Breast Cancer. N Engl J Med. 2019 May 16;380(20):1929-1940. doi: 10.1056/NEJMoa1813904. PMID: 31091374.
https://doi.org/10.1056/nejmoa1813904
Vellanki PJ, Ghosh S, Pathak A, Fusco MJ, Bloomquist EW, Tang S, Singh H, Philip R, Pazdur R, Beaver JA. Regulatory implications of ctDNA in immuno-oncology for solid tumors. J Immunother Cancer. 2023 Feb;11(2):e005344. doi: 10.1136/jitc-2022-005344. PMID: 36796877; PMCID: PMC9936292.
https://doi.org/10.1136/jitc-2022-005344
U.S. Food and Drug Administration. List of Cleared or Approved Companion Diagnostic Devices (In Vitro and Imaging Tools) [Internet]. Silver Spring (MD): FDA; 2024 [cited 2026 Feb 11]. Available from: https://www.fda.gov/medical-devices/in-vitro-diagnostics/list-cleared-or-approved-companion-diagnostic-devices-in-vitro-and-imaging-tools
Chabon JJ, Simmons AD, Lovejoy AF, Esfahani MS, Newman AM, Haringsma HJ, Kurtz DM, Stehr H, Scherer F, Karlovich CA, Harding TC, Durkin KA, Otterson GA, Purcell WT, Camidge DR, Goldman JW, Sequist LV, Piotrowska Z, Wakelee HA, Neal JW, Alizadeh AA, Diehn M. Circulating tumour DNA profiling reveals heterogeneity of EGFR inhibitor resistance mechanisms in lung cancer patients. Nat Commun. 2016 Jun 10;7:11815. doi: 10.1038/ncomms11815. Erratum in: Nat Commun. 2016 Nov 14;7:13513. doi: 10.1038/ncomms13513. PMID: 27283993; PMCID: PMC4906406.
https://doi.org/10.1038/ncomms11815
Dagogo-Jack I, Brannon AR, Ferris LA, Campbell CD, Lin JJ, Schultz KR, Ackil J, Stevens S, Dardaei L, Yoda S, Hubbeling H, Digumarthy SR, Riester M, Hata AN, Sequist LV, Lennes IT, Iafrate AJ, Heist RS, Azzoli CG, Farago AF, Engelman JA, Lennerz JK, Benes CH, Leary RJ, Shaw AT, Gainor JF. Tracking the Evolution of Resistance to ALK Tyrosine Kinase Inhibitors through Longitudinal Analysis of Circulating Tumor DNA. JCO Precis Oncol. 2018;2018:PO.17.00160. doi: 10.1200/PO.17.00160. Epub 2018 Jan 23. PMID: 29376144; PMCID: PMC5785105.
https://doi.org/10.1200/po.17.00160
Dagogo-Jack I, Rooney M, Nagy RJ, Lin JJ, Chin E, Ferris LA, Ackil J, Lennerz JK, Lanman RB, Gainor JF, Shaw AT. Molecular Analysis of Plasma From Patients With ROS1-Positive NSCLC. J Thorac Oncol. 2019 May;14(5):816-824. doi: 10.1016/j.jtho.2019.01.009. Epub 2019 Jan 18. PMID: 30664990; PMCID: PMC6486857.
https://doi.org/10.1016/j.jtho.2019.01.009
Recondo G, Bahcall M, Spurr LF, Che J, Ricciuti B, Leonardi GC, Lo YC, Li YY, Lamberti G, Nguyen T, Milan MSD, Venkatraman D, Umeton R, Paweletz CP, Albayrak A, Cherniack AD, Price KS, Fairclough SR, Nishino M, Sholl LM, Oxnard GR, Jänne PA, Awad MM. Molecular Mechanisms of Acquired Resistance to MET Tyrosine Kinase Inhibitors in Patients with MET Exon 14-Mutant NSCLC. Clin Cancer Res. 2020 Jun 1;26(11):2615-2625. doi: 10.1158/1078-0432.CCR-19-3608. Epub 2020 Feb 7. PMID: 32034073. https://doi.org/10.1158/1078-0432.ccr-19-3608
Dagogo-Jack I, Rooney M, Lin JJ, Nagy RJ, Yeap BY, Hubbeling H, Chin E, Ackil J, Farago AF, Hata AN, Lennerz JK, Gainor JF, Lanman RB, Shaw AT. Treatment with Next-Generation ALK Inhibitors Fuels Plasma ALK Mutation Diversity. Clin Cancer Res. 2019 Nov 15;25(22):6662-6670. doi: 10.1158/1078-0432.CCR-19-1436. Epub 2019 Jul 29. PMID: 31358542; PMCID: PMC6858956. https://doi.org/10.1158/1078-0432.ccr-19-1436
Oxnard GR, Thress KS, Alden RS, Lawrance R, Paweletz CP, Cantarini M, Yang JC, Barrett JC, Jänne PA. Association Between Plasma Genotyping and Outcomes of Treatment With Osimertinib (AZD9291) in Advanced Non-Small-Cell Lung Cancer. J Clin Oncol. 2016 Oct 1;34(28):3375-82. doi: 10.1200/JCO.2016.66.7162. Epub 2016 Jun 27. PMID: 27354477; PMCID: PMC5035123. https://doi.org/10.1200/jco.2016.66.7162
Bidard FC, Kaklamani VG, Neven P, Streich G, Montero AJ, Forget F, Mouret-Reynier MA, Sohn JH, Taylor D, Harnden KK, Khong H, Kocsis J, Dalenc F, Dillon PM, Babu S, Waters S, Deleu I, García Sáenz JA, Bria E, Cazzaniga M, Lu J, Aftimos P, Cortés J, Liu S, Tonini G, Laurent D, Habboubi N, Conlan MG, Bardia A. Elacestrant (oral selective estrogen receptor degrader) Versus Standard Endocrine Therapy for Estrogen Receptor-Positive, Human Epidermal Growth Factor Receptor 2-Negative Advanced Breast Cancer: Results From the Randomized Phase III EMERALD Trial. J Clin Oncol. 2022 Oct 1;40(28):3246-3256. doi: 10.1200/JCO.22.00338. Epub 2022 May 18. Erratum in: J Clin Oncol. 2023 Aug 10;41(23):3962. doi: 10.1200/JCO.23.01239. PMID: 35584336; PMCID: PMC9553388.
https://doi.org/10.1200/jco.22.00338
Burstein HJ, DeMichele A, Somerfield MR, Henry NL; Biomarker Testing and Endocrine and Targeted Therapy in Metastatic Breast Cancer Expert Panels. Testing for ESR1 Mutations to Guide Therapy for Hormone Receptor-Positive, Human Epidermal Growth Factor Receptor 2-Negative Metastatic Breast Cancer: ASCO Guideline Rapid Recommendation Update. J Clin Oncol. 2023 Jun 20;41(18):3423-3425. doi: 10.1200/JCO.23.00638. Epub 2023 May 17. PMID: 37196213. https://doi.org/10.1200/jco.23.00638
Ciardiello D, Martinelli E, Troiani T, Mauri G, Rossini D, Martini G, Napolitano S, Famiglietti V, Del Tufo S, Masi G, Santini D, Avallone A, Pietrantonio F, Lonardi S, Di Maio M, Zampino MG, Fazio N, Bardelli A, Siena S, Cremolini C, Sartore-Bianchi A, Ciardiello F. Anti-EGFR Rechallenge in Patients With Refractory ctDNA RAS/BRAF wt Metastatic Colorectal Cancer: A Nonrandomized Controlled Trial. JAMA Netw Open. 2024 Apr 1;7(4):e245635. doi: 10.1001/jamanetworkopen.2024.5635. Erratum in: JAMA Netw Open. 2024 May 1;7(5):e2418437. doi: 10.1001/jamanetworkopen.2024.18437. PMID: 38592721; PMCID: PMC11004834. https://doi.org/10.1001/jamanetworkopen.2024.5635
Napolitano S, De Falco V, Martini G, Ciardiello D, Martinelli E, Della Corte CM, Esposito L, Famiglietti V, Di Liello A, Avallone A, Cardone C, De Stefano A, Montesarchio V, Zampino MG, Bordonaro R, Scartozzi M, Santini D, Di Maio M, De Vita F, Altucci L, Marrone F, Ciardiello F, Troiani T. Panitumumab Plus Trifluridine-Tipiracil as Anti-Epidermal Growth Factor Receptor Rechallenge Therapy for Refractory RAS Wild-Type Metastatic Colorectal Cancer: A Phase 2 Randomized Clinical Trial. JAMA Oncol. 2023 Jul 1;9(7):966-970. doi: 10.1001/jamaoncol.2023.0655. Erratum in: JAMA Oncol. 2024 Apr 1;10(4):541. doi: 10.1001/jamaoncol.2024.0068. PMID: 37200022; PMCID: PMC10196928.
https://doi.org/10.1001/jamaoncol.2023.0655
Zhang YW, Gvozdenovic A, Aceto N. A Molecular Voyage: Multiomics Insights into Circulating Tumor Cells. Cancer Discov. 2024 Jun 3;14(6):920-933. doi: 10.1158/2159-8290.CD-24-0218. PMID: 38581442.
https://doi.org/10.1158/2159-8290.cd-24-0218
Cristofanilli M, Budd GT, Ellis MJ, Stopeck A, Matera J, Miller MC, Reuben JM, Doyle GV, Allard WJ, Terstappen LW, Hayes DF. Circulating tumor cells, disease progression, and survival in metastatic breast cancer. N Engl J Med. 2004 Aug 19;351(8):781-91. doi: 10.1056/NEJMoa040766. PMID: 15317891. https://doi.org/10.1056/nejmoa040766
de Bono JS, Scher HI, Montgomery RB, Parker C, Miller MC, Tissing H, Doyle GV, Terstappen LW, Pienta KJ, Raghavan D. Circulating tumor cells predict survival benefit from treatment in metastatic castration-resistant prostate cancer. Clin Cancer Res. 2008 Oct 1;14(19):6302-9. doi: 10.1158/1078-0432.CCR-08-0872. Erratum in: Clin Cancer Res. 2009 Feb 15;15(4):1506. PMID: 18829513. https://doi.org/10.1158/1078-0432.ccr-08-0872
Cohen SJ, Punt CJ, Iannotti N, Saidman BH, Sabbath KD, Gabrail NY, Picus J, Morse M, Mitchell E, Miller MC, Doyle GV, Tissing H, Terstappen LW, Meropol NJ. Relationship of circulating tumor cells to tumor response, progression-free survival, and overall survival in patients with metastatic colorectal cancer. J Clin Oncol. 2008 Jul 1;26(19):3213-21. doi: 10.1200/JCO.2007.15.8923. Erratum in: J Clin Oncol. 2009 Apr 10;27(11):1923. PMID: 18591556.
https://doi.org/10.1200/jco.2007.15.8923
Bidard FC, Peeters DJ, Fehm T, Nolé F, Gisbert-Criado R, Mavroudis D, Grisanti S, Generali D, Garcia-Saenz JA, Stebbing J, Caldas C, Gazzaniga P, Manso L, Zamarchi R, de Lascoiti AF, De Mattos-Arruda L, Ignatiadis M, Lebofsky R, van Laere SJ, Meier-Stiegen F, Sandri MT, Vidal-Martinez J, Politaki E, Consoli F, Bottini A, Diaz-Rubio E, Krell J, Dawson SJ, Raimondi C, Rutten A, Janni W, Munzone E, Carañana V, Agelaki S, Almici C, Dirix L, Solomayer EF, Zorzino L, Johannes H, Reis-Filho JS, Pantel K, Pierga JY, Michiels S. Clinical validity of circulating tumour cells in patients with metastatic breast cancer: a pooled analysis of individual patient data. Lancet Oncol. 2014 Apr;15(4):406-14. doi: 10.1016/S1470-2045(14)70069-5. Epub 2014 Mar 11. PMID: 24636208.
https://doi.org/10.1016/s1470-2045(14)70069-5
Hayes DF, Cristofanilli M, Budd GT, Ellis MJ, Stopeck A, Miller MC, Matera J, Allard WJ, Doyle GV, Terstappen LW. Circulating tumor cells at each follow-up time point during therapy of metastatic breast cancer patients predict progression-free and overall survival. Clin Cancer Res. 2006 Jul 15;12(14 Pt 1):4218-24. doi: 10.1158/1078-0432.CCR-05-2821. PMID: 16857794. https://doi.org/10.1158/1078-0432.ccr-05-2821
Bosset JF, Collette L, Calais G, Mineur L, Maingon P, Radosevic-Jelic L, Daban A, Bardet E, Beny A, Ollier JC; EORTC Radiotherapy Group Trial 22921. Chemotherapy with preoperative radiotherapy in rectal cancer. N Engl J Med. 2006 Sep 14;355(11):1114-23. doi: 10.1056/NEJMoa060829. Erratum in: N Engl J Med. 2007 Aug 16;357(7):728. PMID: 16971718. https://doi.org/10.1056/nejmoa060829
Sauer R, Becker H, Hohenberger W, Rödel C, Wittekind C, Fietkau R, Martus P, Tschmelitsch J, Hager E, Hess CF, Karstens JH, Liersch T, Schmidberger H, Raab R; German Rectal Cancer Study Group. Preoperative versus postoperative chemoradiotherapy for rectal cancer. N Engl J Med. 2004 Oct 21;351(17):1731-40. doi: 10.1056/NEJMoa040694. PMID: 15496622. https://doi.org/10.1056/nejmoa040694
Planchard D, Popat S, Kerr K, Novello S, Smit EF, Faivre-Finn C, Mok TS, Reck M, Van Schil PE, Hellmann MD, Peters S; ESMO Guidelines Committee. Metastatic non-small cell lung cancer: ESMO Clinical Practice Guidelines for diagnosis, treatment and follow-up. Ann Oncol. 2018 Oct 1;29(Suppl 4):iv192-iv237. doi: 10.1093/annonc/mdy275. Erratum in: Ann Oncol. 2019 May;30(5):863-870. doi: 10.1093/annonc/mdy474. PMID: 30285222.
https://doi.org/10.1093/annonc/mdy275
Postmus PE, Kerr KM, Oudkerk M, Senan S, Waller DA, Vansteenkiste J, Escriu C, Peters S; ESMO Guidelines Committee. Early and locally advanced non-small-cell lung cancer (NSCLC): ESMO Clinical Practice Guidelines for diagnosis, treatment and follow-up. Ann Oncol. 2017 Jul 1;28(suppl_4):iv1-iv21. doi: 10.1093/annonc/mdx222. PMID: 28881918. https://doi.org/10.1093/annonc/mdx222
Pascual J, Attard G, Bidard FC, Curigliano G, De Mattos-Arruda L, Diehn M, Italiano A, Lindberg J, Merker JD, Montagut C, Normanno N, Pantel K, Pentheroudakis G, Popat S, Reis-Filho JS, Tie J, Seoane J, Tarazona N, Yoshino T, Turner NC. 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 Aug;33(8):750-768. doi: 10.1016/j.annonc.2022.05.520. Epub 2022 Jul 6. PMID: 35809752. https://doi.org/10.1016/j.annonc.2022.05.520
Dawson SJ, Tsui DW, Murtaza M, Biggs H, Rueda OM, Chin SF, Dunning MJ, Gale D, Forshew T, Mahler-Araujo B, Rajan S, Humphray S, Becq J, Halsall D, Wallis M, Bentley D, Caldas C, Rosenfeld N. Analysis of circulating tumor DNA to monitor metastatic breast cancer. N Engl J Med. 2013 Mar 28;368(13):1199-209. doi: 10.1056/NEJMoa1213261. Epub 2013 Mar 13. PMID: 23484797. https://doi.org/10.1056/nejmoa1213261
Garcia-Murillas I, Schiavon G, Weigelt B, Ng C, Hrebien S, Cutts RJ, Cheang M, Osin P, Nerurkar A, Kozarewa I, Garrido JA, Dowsett M, Reis-Filho JS, Smith IE, Turner NC. Mutation tracking in circulating tumor DNA predicts relapse in early breast cancer. Sci Transl Med. 2015 Aug 26;7(302):302ra133. doi: 10.1126/scitranslmed.aab0021. PMID: 26311728. https://doi.org/10.1126/scitranslmed.aab0021
Siravegna G, Mussolin B, Buscarino M, Corti G, Cassingena A, Crisafulli G, Ponzetti A, Cremolini C, Amatu A, Lauricella C, Lamba S, Hobor S, Avallone A, Valtorta E, Rospo G, Medico E, Motta V, Antoniotti C, Tatangelo F, Bellosillo B, Veronese S, Budillon A, Montagut C, Racca P, Marsoni S, Falcone A, Corcoran RB, Di Nicolantonio F, Loupakis F, Siena S, Sartore-Bianchi A, Bardelli A. Clonal evolution and resistance to EGFR blockade in the blood of colorectal cancer patients. Nat Med. 2015 Jul;21(7):795-801. doi: 10.1038/nm. 3870. Epub 2015 Jun 1. Erratum in: Nat Med. 2015 Jul;21(7):doi:10.1038/nm0715-827b. Erratum in: Nat Med. 2015 Jul;21(7):827. doi: 10.1038/nm0715-827b. PMID: 26030179; PMCID: PMC4868598. https://doi.org/10.1038/nm.3870
Oxnard GR, Paweletz CP, Kuang Y, Mach SL, O'Connell A, Messineo MM, Luke JJ, Butaney M, Kirschmeier P, Jackman DM, Jänne PA. Noninvasive detection of response and resistance in EGFR-mutant lung cancer using quantitative next-generation genotyping of cell-free plasma DNA. Clin Cancer Res. 2014 Mar 15;20(6):1698-1705. doi: 10.1158/1078-0432.CCR-13-2482. Epub 2014 Jan 15. PMID: 24429876; PMCID: PMC3959249.
https://doi.org/10.1158/1078-0432.ccr-13-2482
Rolfo C, Mack P, Scagliotti GV, Aggarwal C, Arcila ME, Barlesi F, Bivona T, Diehn M, Dive C, Dziadziuszko R, Leighl N, Malapelle U, Mok T, Peled N, Raez LE, Sequist L, Sholl L, Swanton C, Abbosh C, Tan D, Wakelee H, Wistuba I, Bunn R, Freeman-Daily J, Wynes M, Belani C, Mitsudomi T, Gandara D. Liquid Biopsy for Advanced NSCLC: A Consensus Statement From the International Association for the Study of Lung Cancer. J Thorac Oncol. 2021 Oct;16(10):1647-1662. doi: 10.1016/j.jtho.2021.06.017. Epub 2021 Jul 8. PMID: 34246791. https://doi.org/10.1016/j.jtho.2021.06.017
Merker JD, Oxnard GR, Compton C, Diehn M, Hurley P, Lazar AJ, Lindeman N, Lockwood CM, Rai AJ, Schilsky RL, Tsimberidou AM, Vasalos P, Billman BL, Oliver TK, Bruinooge SS, Hayes DF, Turner NC. Circulating Tumor DNA Analysis in Patients With Cancer: American Society of Clinical Oncology and College of American Pathologists Joint Review. J Clin Oncol. 2018 Jun 1;36(16):1631-1641. doi: 10.1200/JCO.2017.76.8671. Epub 2018 Mar 5. PMID: 29504847. https://doi.org/10.1200/jco.2017.76.8671
Leighl NB, Page RD, Raymond VM, Daniel DB, Divers SG, Reckamp KL, Villalona-Calero MA, Dix D, Odegaard JI, Lanman RB, Papadimitrakopoulou VA. Clinical Utility of Comprehensive Cell-free DNA Analysis to Identify Genomic Biomarkers in Patients with Newly Diagnosed Metastatic Non-small Cell Lung Cancer. Clin Cancer Res. 2019 Aug 1;25(15):4691-4700. doi: 10.1158/1078-0432.CCR-19-0624. Epub 2019 Apr 15. PMID: 30988079.
https://doi.org/10.1158/1078-0432.ccr-19-0624
Aggarwal C, Thompson JC, Black TA, Katz SI, Fan R, Yee SS, Chien AL, Evans TL, Bauml JM, Alley EW, Ciunci CA, Berman AT, Cohen RB, Lieberman DB, Majmundar KS, Savitch SL, Morrissette JJD, Hwang WT, Elenitoba-Johnson KSJ, Langer CJ, Carpenter EL. Clinical Implications of Plasma-Based Genotyping With the Delivery of Personalized Therapy in Metastatic Non-Small Cell Lung Cancer. JAMA Oncol. 2019 Feb 1;5(2):173-180. doi: 10.1001/jamaoncol.2018.4305. PMID: 30325992; PMCID: PMC6396811. https://doi.org/10.1001/jamaoncol.2018.4305
Oxnard GR, Thress KS, Alden RS, Lawrance R, Paweletz CP, Cantarini M, Yang JC, Barrett JC, Jänne PA. Association Between Plasma Genotyping and Outcomes of Treatment With Osimertinib (AZD9291) in Advanced Non-Small-Cell Lung Cancer. J Clin Oncol. 2016 Oct 1;34(28):3375-82. doi: 10.1200/JCO.2016.66.7162. Epub 2016 Jun 27. PMID: 27354477; PMCID: PMC5035123. https://doi.org/10.1200/jco.2016.66.7162
Thress KS, Paweletz CP, Felip E, Cho BC, Stetson D, Dougherty B, Lai Z, Markovets A, Vivancos A, Kuang Y, Ercan D, Matthews SE, Cantarini M, Barrett JC, Jänne PA, Oxnard GR. Acquired EGFR C797S mutation mediates resistance to AZD9291 in non-small cell lung cancer harboring EGFR T790M. Nat Med. 2015 Jun;21(6):560-2. doi: 10.1038/nm. 3854. Epub 2015 May 4. PMID: 25939061; PMCID: PMC4771182. https://doi.org/10.1038/nm.3854
Stockley TL, Oza AM, Berman HK, Leighl NB, Knox JJ, Shepherd FA, Chen EX, Krzyzanowska MK, Dhani N, Joshua AM, Tsao MS, Serra S, Clarke B, Roehrl MH, Zhang T, Sukhai MA, Califaretti N, Trinkaus M, Shaw P, van der Kwast T, Wang L, Virtanen C, Kim RH, Razak AR, Hansen AR, Yu C, Pugh TJ, Kamel-Reid S, Siu LL, Bedard PL. Molecular profiling of advanced solid tumors and patient outcomes with genotype-matched clinical trials: the Princess Margaret IMPACT/COMPACT trial. Genome Med. 2016 Oct 25;8(1):109. doi: 10.1186/s13073-016-0364-2. PMID: 27782854; PMCID: PMC5078968. https://doi.org/10.1186/s13073-016-0364-2
Cabel L, Proudhon C, Romano E, Girard N, Lantz O, Stern MH, Pierga JY, Bidard FC. Clinical potential of circulating tumour DNA in patients receiving anticancer immunotherapy. Nat Rev Clin Oncol. 2018 Oct;15(10):639-650. doi: 10.1038/s41571-018-0074-3. PMID: 30050094. https://doi.org/10.1038/s41571-018-0074-3
Reinert T, Henriksen TV, Christensen E, Sharma S, Salari R, Sethi H, Knudsen M, Nordentoft I, Wu HT, Tin AS, Heilskov Rasmussen M, Vang S, Shchegrova S, Frydendahl Boll Johansen A, Srinivasan R, Assaf Z, Balcioglu M, Olson A, Dashner S, Hafez D, Navarro S, Goel S, Rabinowitz M, Billings P, Sigurjonsson S, Dyrskjøt L, Swenerton R, Aleshin A, Laurberg S, Husted Madsen A, Kannerup AS, Stribolt K, Palmelund Krag S, Iversen LH, Gotschalck Sunesen K, Lin CJ, Zimmermann BG, Lindbjerg Andersen C. Analysis of Plasma Cell-Free DNA by Ultradeep Sequencing in Patients With Stages I to III Colorectal Cancer. JAMA Oncol. 2019 Aug 1;5(8):1124-1131. doi: 10.1001/jamaoncol.2019.0528. Erratum in: JAMA Oncol. 2019 Aug 1;5(8):1232. doi: 10.1001/jamaoncol.2019.2162. PMID: 31070691; PMCID: PMC6512280. https://doi.org/10.1001/jamaoncol.2019.0528
Razavi P, Li BT, Brown DN, Jung B, Hubbell E, Shen R, Abida W, Juluru K, De Bruijn I, Hou C, Venn O, Lim R, Anand A, Maddala T, Gnerre S, Vijaya Satya R, Liu Q, Shen L, Eattock N, Yue J, Blocker AW, Lee M, Sehnert A, Xu H, Hall MP, Santiago-Zayas A, Novotny WF, Isbell JM, Rusch VW, Plitas G, Heerdt AS, Ladanyi M, Hyman DM, Jones DR, Morrow M, Riely GJ, Scher HI, Rudin CM, Robson ME, Diaz LA Jr, Solit DB, Aravanis AM, Reis-Filho JS. High-intensity sequencing reveals the sources of plasma circulating cell-free DNA variants. Nat Med. 2019 Dec;25(12):1928-1937. doi: 10.1038/s41591-019-0652-7. Epub 2019 Nov 25. PMID: 31768066; PMCID: PMC7061455.
https://doi.org/10.1038/s41591-019-0652-7
Annala M, Vandekerkhove G, Khalaf D, Taavitsainen S, Beja K, Warner EW, Sunderland K, Kollmannsberger C, Eigl BJ, Finch D, Oja CD, Vergidis J, Zulfiqar M, Azad AA, Nykter M, Gleave ME, Wyatt AW, Chi KN. Circulating Tumor DNA Genomics Correlate with Resistance to Abiraterone and Enzalutamide in Prostate Cancer. Cancer Discov. 2018 Apr;8(4):444-457. doi: 10.1158/2159-8290.CD-17-0937. Epub 2018 Jan 24. PMID: 29367197.
https://doi.org/10.1158/2159-8290.cd-17-0937
Tie J, Wang Y, Tomasetti C, Li L, Springer S, Kinde I, Silliman N, Tacey M, Wong HL, Christie M, Kosmider S, Skinner I, Wong R, Steel M, Tran B, Desai J, Jones I, Haydon A, Hayes T, Price TJ, Strausberg RL, Diaz LA Jr, Papadopoulos N, Kinzler KW, Vogelstein B, Gibbs P. Circulating tumor DNA analysis detects minimal residual disease and predicts recurrence in patients with stage II colon cancer. Sci Transl Med. 2016 Jul 6;8(346):346ra92. doi: 10.1126/scitranslmed.aaf6219. PMID: 27384348; PMCID: PMC5346159. https://doi.org/10.1126/scitranslmed.aaf6219
Alix-Panabières C, Pantel K. Clinical Applications of Circulating Tumor Cells and Circulating Tumor DNA as Liquid Biopsy. Cancer Discov. 2016 May;6(5):479-91. doi: 10.1158/2159-8290.CD-15-1483. Epub 2016 Mar 11. PMID: 26969689. https://doi.org/10.1158/2159-8290.cd-15-1483
Cohen JD, Li L, Wang Y, Thoburn C, Afsari B, Danilova L, Douville C, Javed AA, Wong F, Mattox A, Hruban RH, Wolfgang CL, Goggins MG, Dal Molin M, Wang TL, Roden R, Klein AP, Ptak J, Dobbyn L, Schaefer J, Silliman N, Popoli M, Vogelstein JT, Browne JD, Schoen RE, Brand RE, Tie J, Gibbs P, Wong HL, Mansfield AS, Jen J, Hanash SM, Falconi M, Allen PJ, Zhou S, Bettegowda C, Diaz LA Jr, Tomasetti C, Kinzler KW, Vogelstein B, Lennon AM, Papadopoulos N. Detection and localization of surgically resectable cancers with a multi-analyte blood test. Science. 2018 Feb 23;359(6378):926-930. doi: 10.1126/science.aar3247. Epub 2018 Jan 18. PMID: 29348365; PMCID: PMC6080308.
https://doi.org/10.1126/science.aar3247
Wan JCM, Massie C, Garcia-Corbacho J, Mouliere F, Brenton JD, Caldas C, Pacey S, Baird R, Rosenfeld N. Liquid biopsies come of age: towards implementation of circulating tumour DNA. Nat Rev Cancer. 2017 Apr;17(4):223-238. doi: 10.1038/nrc.2017.7. Epub 2017 Feb 24. PMID: 28233803. https://doi.org/10.1038/nrc.2017.7
Ignatiadis M, Sledge GW, Jeffrey SS. Liquid biopsy enters the clinic - implementation issues and future challenges. Nat Rev Clin Oncol. 2021 May;18(5):297-312. doi: 10.1038/s41571-020-00457-x. Epub 2021 Jan 20. PMID: 33473219.
https://doi.org/10.1038/s41571-020-00457-x
Redig AJ, Costa DB, Taibi M, Boucher D, Johnson BE, Jänne PA, Jackman DM. Prospective Study of Repeated Biopsy Feasibility and Acquired Resistance at Disease Progression in Patients With Advanced EGFR Mutant Lung Cancer Treated With Erlotinib in a Phase 2 Trial. JAMA Oncol. 2016 Sep 1;2(9):1240-2. doi: 10.1001/jamaoncol.2016.1304. PMID: 27387964. https://doi.org/10.1001/jamaoncol.2016.1304
Hayes DF, Cristofanilli M, Budd GT, Ellis MJ, Stopeck A, Miller MC, Matera J, Allard WJ, Doyle GV, Terstappen LW. Circulating tumor cells at each follow-up time point during therapy of metastatic breast cancer patients predict progression-free and overall survival. Clin Cancer Res. 2006 Jul 15;12(14 Pt 1):4218-24. doi: 10.1158/1078-0432.CCR-05-2821. PMID: 16857794. https://doi.org/10.1158/1078-0432.ccr-05-2821
Downloads
Published
How to Cite
Issue
Section
License
Copyright (c) 2026 Sara Sayed Ahmed Osman, Dr. shaifalika thakur
This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.
