Detecting Liquid Remnants of Solid Tumors: Circulating Tumor DNA Minimal Residual Disease

Overview

Journal Cancer Discov

Specialty Oncology

Date 2021 Nov 17

PMID 34785539

Citations 90

Authors

Everett J Moding

Barzin Y Nabet

Ash A Alizadeh

Maximilian Diehn

Affiliations

Soon will be listed here.

Abstract

Significance: ctDNA analysis enables detection of MRD and predicts relapse after definitive treatment for solid cancers, thereby promising to revolutionize personalization of adjuvant and consolidation therapies.

Citing Articles

Circulating tumor DNA analysis guiding adjuvant therapy in stage II colon cancer: 5-year outcomes of the randomized DYNAMIC trial.

Tie J, Wang Y, Lo S, Lahouel K, Cohen J, Wong R Nat Med. 2025; .

PMID: 40055522 DOI: 10.1038/s41591-025-03579-w.

Genomic and fragmentomic landscapes of cell-free DNA for early cancer detection.

Bruhm D, Vulpescu N, Foda Z, Phallen J, Scharpf R, Velculescu V Nat Rev Cancer. 2025; .

PMID: 40038442 DOI: 10.1038/s41568-025-00795-x.

ctDNA-based liquid biopsy reveals wider mutational profile with therapy resistance and metastasis susceptibility signatures in early-stage breast cancer patients.

Bharde A, Nadagouda S, Dongare M, Hariramani K, Basavalingegowda M, Haldar S J Liq Biopsy. 2025; 7:100284.

PMID: 40027235 PMC: 11863978. DOI: 10.1016/j.jlb.2024.100284.

Liquid biopsy into the clinics: Current evidence and future perspectives.

Boukovala M, Westphalen C, Probst V J Liq Biopsy. 2025; 4:100146.

PMID: 40027149 PMC: 11863819. DOI: 10.1016/j.jlb.2024.100146.

Cellular residual disease (CRD) in early breast cancer -Expanding the concept of minimal residual disease monitoring?.

Serafini M, Molteni E, Nicolo E, Gerratana L, Reduzzi C, Cristofanilli M J Liq Biopsy. 2025; 3:100132.

PMID: 40026561 PMC: 11863885. DOI: 10.1016/j.jlb.2023.100132.

References

Parikh A, Van Seventer E, Siravegna G, Hartwig A, Jaimovich A, He Y . Minimal Residual Disease Detection using a Plasma-only Circulating Tumor DNA Assay in Patients with Colorectal Cancer. Clin Cancer Res. 2021; 27(20):5586-5594. PMC: 8530842. DOI: 10.1158/1078-0432.CCR-21-0410. View

Yeung C, Egan D, Radich J . Molecular monitoring of chronic myeloid leukemia: present and future. Expert Rev Mol Diagn. 2016; 16(10):1083-1091. PMC: 5161535. DOI: 10.1080/14737159.2016.1227243. View

Liu J, Chen X, Wang J, Zhou S, Wang C, Ye M . Biological background of the genomic variations of cf-DNA in healthy individuals. Ann Oncol. 2018; 30(3):464-470. DOI: 10.1093/annonc/mdy513. View

Armbruster D, Pry T . Limit of blank, limit of detection and limit of quantitation. Clin Biochem Rev. 2008; 29 Suppl 1:S49-52. PMC: 2556583. View

Gagliato D, Gonzalez-Angulo A, Lei X, Theriault R, Giordano S, Valero V . Clinical impact of delaying initiation of adjuvant chemotherapy in patients with breast cancer. J Clin Oncol. 2014; 32(8):735-44. PMC: 3940536. DOI: 10.1200/JCO.2013.49.7693. View

Wan J, Heider K, Gale D, Murphy S, Fisher E, Mouliere F . ctDNA monitoring using patient-specific sequencing and integration of variant reads. Sci Transl Med. 2020; 12(548). DOI: 10.1126/scitranslmed.aaz8084. View

Mordant P, Loriot Y, Lahon B, Castier Y, Leseche G, Soria J . Minimal residual disease in solid neoplasia: New frontier or red-herring?. Cancer Treat Rev. 2011; 38(2):101-10. DOI: 10.1016/j.ctrv.2011.04.014. View

Khakoo S, Carter P, Brown G, Valeri N, Picchia S, Antonietta Bali M . MRI Tumor Regression Grade and Circulating Tumor DNA as Complementary Tools to Assess Response and Guide Therapy Adaptation in Rectal Cancer. Clin Cancer Res. 2019; 26(1):183-192. DOI: 10.1158/1078-0432.CCR-19-1996. View

Chaudhuri A, Chabon J, Lovejoy A, Newman A, Stehr H, Azad T . Early Detection of Molecular Residual Disease in Localized Lung Cancer by Circulating Tumor DNA Profiling. Cancer Discov. 2017; 7(12):1394-1403. PMC: 5895851. DOI: 10.1158/2159-8290.CD-17-0716. View

10.

Lui Y, Chik K, Chiu R, Ho C, Lam C, Lo Y . Predominant hematopoietic origin of cell-free DNA in plasma and serum after sex-mismatched bone marrow transplantation. Clin Chem. 2002; 48(3):421-7. View

11.

Genovese G, Kahler A, Handsaker R, Lindberg J, Rose S, Bakhoum S . Clonal hematopoiesis and blood-cancer risk inferred from blood DNA sequence. N Engl J Med. 2014; 371(26):2477-87. PMC: 4290021. DOI: 10.1056/NEJMoa1409405. View

12.

Martincorena I, Fowler J, Wabik A, Lawson A, Abascal F, Hall M . Somatic mutant clones colonize the human esophagus with age. Science. 2018; 362(6417):911-917. PMC: 6298579. DOI: 10.1126/science.aau3879. View

13.

Wang Y, Li L, Cohen J, Kinde I, Ptak J, Popoli M . Prognostic Potential of Circulating Tumor DNA Measurement in Postoperative Surveillance of Nonmetastatic Colorectal Cancer. JAMA Oncol. 2019; 5(8):1118-1123. PMC: 6512291. DOI: 10.1001/jamaoncol.2019.0512. View

14.

Schwarzenbach H, Hoon D, Pantel K . Cell-free nucleic acids as biomarkers in cancer patients. Nat Rev Cancer. 2011; 11(6):426-37. DOI: 10.1038/nrc3066. View

15.

Azad T, Chaudhuri A, Fang P, Qiao Y, Esfahani M, Chabon J . Circulating Tumor DNA Analysis for Detection of Minimal Residual Disease After Chemoradiotherapy for Localized Esophageal Cancer. Gastroenterology. 2019; 158(3):494-505.e6. PMC: 7010551. DOI: 10.1053/j.gastro.2019.10.039. View

16.

Clark M, Chen R, Lam H, Karczewski K, Chen R, Euskirchen G . Performance comparison of exome DNA sequencing technologies. Nat Biotechnol. 2011; 29(10):908-14. PMC: 4127531. DOI: 10.1038/nbt.1975. View

17.

Vessies D, Greuter M, van Rooijen K, Linders T, Lanfermeijer M, Ramkisoensing K . Performance of four platforms for KRAS mutation detection in plasma cell-free DNA: ddPCR, Idylla, COBAS z480 and BEAMing. Sci Rep. 2020; 10(1):8122. PMC: 7229219. DOI: 10.1038/s41598-020-64822-7. 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.

Peto R, Davies C, Godwin J, Gray R, Pan H, Clarke M . Comparisons between different polychemotherapy regimens for early breast cancer: meta-analyses of long-term outcome among 100,000 women in 123 randomised trials. Lancet. 2011; 379(9814):432-44. PMC: 3273723. DOI: 10.1016/S0140-6736(11)61625-5. View

20.

Giobbie-Hurder A, Gelber R, Regan M . Challenges of guarantee-time bias. J Clin Oncol. 2013; 31(23):2963-9. PMC: 3732313. DOI: 10.1200/JCO.2013.49.5283. View