Table 2. Urinary cfDNA mutational panels and clinical utilities for urothelial carcinoma.
| Cancer type | Cohort | Sample | Method | Sensitivity | Specificity | Reference | Note |
|---|---|---|---|---|---|---|---|
| MIBC | 17 | p, ucf | WGS | – | – | 108 | – |
| Mostly NMIBC | 143 UC, 144 control | p, up, ucf | Targeted sequence (TERT promoter) | 81.8% | 97.7% | 107 | ** |
| NMIBC | 25 | p, ucf | Targeted sequence (71 genes) | – | – | 109 | – |
| NMIBC (cystectomy) | 363 NMIBC, 468 cystectomies | p, ucf | Personalized ddPCR | NA | NA | 106 | – |
| UBC | 23 | up, ucf | Oncoscan | 90% | – | 64 | *** |
| UBC | 150 UBC, 52 hematuria | ucf | ddPCR (TERT promoter, and FGFR3) | 85.9%* | 100% | 105 | – |
| UBC | 6 progress, 6 recurrence | p, ucf | Personalized ddPCR | NA | NA | 110 | – |
| UBC | 9 cystectomies | ucf | Targeted sequence (9 genes) | – | – | 111 | – |
| UBC | 104 | ucf | ddPCR (TERT promoter) | 68.3% | – | 112 | – |
| UBC | 53 UBC, 36 control | up, ucf | Targeted sequence (TERT promoter) | 63% | – | 115 | **** |
| UBC | 118 UBC, 67 control | ucf | Targeted sequence (460 genes) | 93% | 96% | 77 | – |
| UBC | 92 BT, 33 control | up, ucf | Targeted sequence (5 genes) | – | – | 116 | – |
| UC | 65 UC, 198 control | up, ucf | WGS | 86.5% | 94.7% | 65 | – |
| UTUC | 56 UTUC, 50 hematuria, 21 surveillance, 26 control |
ucf | ddPCR (TERT promoter, FGFR3, and PIK3CA) | 78.6%* | 96% | 113 | – |
| UTUC | 26 | ucf | WGS | – | – | 114 | – |
*, combined with urine cytology; **, the sensitivity was 66–83.5% in urine pellet, and 7.1% in p.; the specificity was 94.6–100% in urine pellet, and 98.7% in p.; ***, the sensitivity was 61% in urine pellet; ****, the sensitivity was 77% in urine pellet. p, plasma; up, urine pellet DNA; ucf, urinary cfDNA; WGS, whole genome sequence.