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Most upper tract urothelial carcinomas ( UTUC ) are muscle invasive at the time of diagnosis. Current standard methods for the diagnosis of  UTUC  are invasive. Urine cytology is the only non‐invasive test for detecting  UTUC , but its sensitivity is low. A novel non‐invasive assay for  UTUC  detection would improve patient outcome. This study aimed to investigate the mutation of cell‐free  DNA  (cf DNA ) in urine supernatant to develop a reliable diagnostic biomarker for  UTUC  patients. We studied urinary cf DNA  from 153 individuals, including 56 patients with localized  UTUC , and carried out droplet digital  PCR  assay for   TERT   promoter and   FGFR 3  hotspot mutations. We could detect mutations of   TERT   C228T in 22/56 (39.3%),   TERT   C250T in 4/56 (7.1%), and   FGFR 3  S249C in 9/56 (16.1%) patients.   FGFR 3  mutation was detected only in ≤ pT 1 tumors (positive predictive value: 100.0%). In combination with cytology results, the sensitivity was 78.6%, and the specificity was 96.0%. Although these data need to be validated in a larger‐scale cohort, mutation analysis of   TERT   promoter and   FGFR 3  in urinary cf DNA  has the potential to be a non‐invasive diagnostic marker and reliable factor for tumor staging.

Diagnostic potential of TERT promoter and FGFR 3 mutations in urinary cell‐free DNA in upper tract urothelial carcinoma