Table 1.
Urine cell-free DNA liquid biopsy studies for urological cancers.a
| Cancer type |
Cancer patients enrolled |
Assessed biomarkers | ucfDNA analytical technique | Study purpose | Tumor mutation profiling comparison | Year | Reference |
|---|---|---|---|---|---|---|---|
| Bladder | 51 | ucfDNA integrity | qPCR | Cancer diagnosis | 73% sensitivity and 84% specificity with healthy patients | 2013 | Casadio et al. (21) |
| Bladder | 104 | TERT 228 G > A/T mutation | ddPCR | Cancer detection | 92% concordance with tissue, 96% specificity | 2018 | Russo et al.(22) |
| Bladder | 92 | 48 bladder-cancer specific genes | NGS | Cancer detection | N/A | 2020 | Ou et al.(23) |
| Bladder | 46 | ucfDNA methylation and copy number alterations | Shallow-depth genome-wide bisulfite sequencing | Cancer detection, diagnosis, monitoring | 93.5% sensitivity and 95.8% specificity | 2019 | Cheng et al. (24) |
| Bladder | 54 | utDNA mutations | Novel high-throughput sequencing method (uCAPP-Seq) | Cancer detection & monitoring | 93% sensitivity and 100% specificity for tumor mutation-informed approach, 84% sensitivity and 96% specificity when blinded | 2019 | Dudley et al. (25) |
| Bladder | 47 | 22 bladder cancer-related genes, 740 mutation hotspots | Cell-free single-molecule unique primer extension resequencing (cf-SUPER) | Cancer detection | 82.7% sensitivity and 89.6% specificity | 2020 | Zhao et al.(26) |
| Bladder | 56 | TERT promoter and FGFR3 mutations | ddPCR | Cancer diagnosis | 55.4% sensitivity and 100% specificity | 2019 | Hayashi et al. (27) |
| Renal | 91 | Common renal cancer mutations | sWGS | Characterization of urine cell-free tumor DNA | Roughly 50% for a targeted approach using plasma and urine | 2020 | Smith et al.(28) |
| Renal and Bladder | 120 | cfDNA differentially methylated regions | Cell-free methylated DNA immunoprecipitation and high-throughput sequencing (cfMeDIP-seq) | Cancer detection | 0.858 AUROC | 2020 | Nuzzo et al. (29) |
| Prostate | 67 | ucfDNA integrity | qPCR | Cancer detection | 58% sensitivity and 44% specificity | 2015 | Salvi et al. (30) |
a
Abbreviations: cfDNA, cell-free DNA; ddPCR, droplet digital PCR; NGS, next-generation sequencing; qPCR, quantitative PCR; sWGS, shallow whole genome sequencing; ucfDNA, urinary cell-free DNA; utDNA, urine tumor DNA; AUROC, area under the receiver operating characteristic; N/A, not performed.