Table 1:
Studies evaluating circulating tumor DNA minimal residual disease in solid cancers.
| Study | Tumor Type | Methodology | Mutations Monitored | Total Patients | ctDNA MRD Landmark | ctDNA Surveillance | ||
|---|---|---|---|---|---|---|---|---|
| Sensitivity | Specificity | Sensitivity | Specificity | |||||
| Peng et al. 2020 (111) | Lung | Amplicon NGS | Multiple | 48 | 50.0% | 88.9% | 66.7% | 72.2% |
| Chaudhuri et al. 2017 (62) | Lung | Capture NGS | Multiple | 37 | 94.0% | 100.0% | 100.0% | 100.0% |
| Abbosh et al. 2017 (31) | Lung | PCR NGS | Multiple | 24 | 35.7% | 90.0% | 92.9% | 90.0% |
| Moding et al. 2020 (90) | Lung | Capture NGS | Multiple | 12 | 100.0% | 100.0% | - | - |
| Garcia-Murillas et al. 2019 (113) | Breast | Digital PCR | Single | 101 | - | - | 75.0% | 92.1% |
| Coombes et al. 2019 (34) | Breast | Amplicon NGS | Multiple | 49 | 55.6% | 100.0% | 88.9% | 100.0% |
| Garcia-Murillas et al. 2015 (27) | Breast | Digital PCR | Single | 43 | 50.0% | 96.0% | 80.0% | 96.4% |
| Olsson et al. 2015 (112) | Breast | Digital PCR | Multiple | 20 | - | - | 92.8% | 100.0% |
| Tie et al. 2016 (91) | Colon | Amplicon NGS | Single | 178 | 40.7% | 98.0% | 85.2% | 98.0% |
| Tie et al. 2019 (92) | Colon | Amplicon NGS | Single | 88 | 43.5% | 92.3% | - | - |
| Wang et al. 2019 (114) | Colon | Amplicon NGS | Single | 40 | - | - | 100.0% | 90.6% |
| Reinert et al. 2019 (36) | Colorectal | Amplicon NGS | Multiple | 94 | 41.2% | 96.1% | 87.5% | 98.3% |
| Parikh et al. 2021 (52) | Colorectal | Methylation and Capture NGS | Multiple | 72 | 55.6% | 100.0% | 69.0% | 95.3% |
| Scholer et al. 2017 (28) | Colorectal | Digital PCR | Single | 26 | 60.0% | 100.0% | 100.0% | 100.0% |
| Diehl et al. 2008 (107) | Colorectal | Digital PCR | Single | 20 | 100.0% | 80.0% | - | - |
| Tie et al. 2018 (89) | Rectal | Amplicon NGS | Single | 159 | 47.8% | 94.1% | - | - |
| Khakoo et al. 2019 (109) | Rectal | Digital PCR | Multiple | 23 | 75.0% | 100.0% | - | - |
| Azad et al. 2020 (65) | Esophageal | Capture NGS | Multiple | 15 | 55.6% | 100.0% | - | - |
| Jiang et al. 2020 (110) | Pancreas | Capture NGS | Multiple | 27 | 57.1% | 92.3% | - | - |
| Sausen et al. 2015 (108) | Pancreas | Digital PCR | Single | 20 | 69.2% | 42.9% | - | - |
| Christensen et al. 2019 (35) | Bladder | Amplicon NGS | Multiple | 66 | 21.4% | 98.1% | 100.0% | 97.9% |
Abbreviations: ctDNA: circulating tumor DNA, MRD: minimal residual disease, NGS: next-generation sequencing, - : not reported or unable to be calculated.
Clinical sensitivity (percentage of patients who relapsed in the follow up period who were ctDNA positive) and clinical specificity (percentage of patients who did not relapse in the follow up period who were ctDNA negative) were calculated for the first follow up sample after completing definitive therapy (ctDNA MRD Landmark) or for repeated ctDNA analysis during follow up (ctDNA Surveillance). Patients who received additional therapy after ctDNA analysis were excluded if noted in the study.