Letter to the Editor: clinical utility of urine DNA for noninvasive detection and minimal residual disease monitoring in urothelial carcinoma

Mol Cancer. 2023 Feb 4;22(1):25. doi: 10.1186/s12943-023-01729-7.


Current methods for the early detection and minimal residual disease (MRD) monitoring of urothelial carcinoma (UC) are invasive and/or possess suboptimal sensitivity. We developed an efficient workflow named urine tumor DNA multidimensional bioinformatic predictor (utLIFE). Using UC-specific mutations and large copy number variations, the utLIFE-UC model was developed on a bladder cancer cohort (n = 150) and validated in The Cancer Genome Atlas (TCGA) bladder cancer cohort (n = 674) and an upper tract urothelial carcinoma (UTUC) cohort (n = 22). The utLIFE-UC model could discriminate 92.8% of UCs with 96.0% specificity and was robustly validated in the BLCA_TCGA and UTUC cohorts. Furthermore, compared to cytology, utLIFE-UC improved the sensitivity of bladder cancer detection (p < 0.01). In the MRD cohort, utLIFE-UC could distinguish 100% of patients with residual disease, showing superior sensitivity compared to cytology (p < 0.01) and fluorescence in situ hybridization (FISH, p < 0.05). This study shows that utLIFE-UC can be used to detect UC with high sensitivity and specificity in patients with early-stage cancer or MRD. The utLIFE-UC is a cost-effective, rapid, high-throughput, noninvasive, and promising approach that may reduce the burden of cystoscopy and blind surgery.

Keywords: Early detection; MRD; Urine DNA; Urothelial carcinoma; utLIFE.

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Carcinoma, Transitional Cell* / diagnosis
  • Carcinoma, Transitional Cell* / genetics
  • Carcinoma, Transitional Cell* / pathology
  • DNA
  • DNA Copy Number Variations
  • Humans
  • In Situ Hybridization, Fluorescence / methods
  • Neoplasm, Residual / diagnosis
  • Neoplasm, Residual / genetics
  • Sensitivity and Specificity
  • Urinary Bladder Neoplasms* / diagnosis
  • Urinary Bladder Neoplasms* / genetics
  • Urinary Bladder Neoplasms* / pathology


  • DNA