ArticleCancer science2019
Diagnostic potential of TERT promoter and FGFR3 mutations in urinary cell-free DNA in upper tract urothelial carcinoma.
Article in Cancer science, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 67 papers.
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Who cites it
67 citing papers in PubMed, 82 citations in OpenAlex.
- Paired Urinary Cytology and Targeted FGFR3 S249C/R248C Mutation Detection in Urine from Patients with Bladder Cancer: A Pilot Study.Journal of clinical medicine · 2026Article
- Urinary DNA Extraction in Uro-Oncology and Selected Non-Urological Malignancies: A Narrative Review.Journal of clinical medicine · 2026Review
- Urinary Biomarkers in Urological Oncology: From Biological Origin to Clinical Decision-Making-A Narrative Review.Diagnostics (Basel, Switzerland) · 2026Review
- Development and Broad Application of a Double Drop-Off ddPCR Assay for Simultaneous Detection of FourCancers · 2026Article
- [Diagnosis and treatment of upper tract urothelial carcinoma: assessment of guideline compliance from 2011-2024].Urologie (Heidelberg, Germany) · 2026Article
- Upper Tract Urothelial Carcinoma: An Update on Current Diagnostic Modalities and Emerging Biomarkers.Journal of personalized medicine · 2026Review
- From feasibility to translational pathways: a bibliometric and knowledge-mapping analysis of urine-based liquid biopsy in urologic cancers (2015-2025).Journal of translational medicine · 2026Review
- Review
- Urine-Based Biomarkers in the Diagnosis of Upper Tract Urothelial Carcinoma: A Systematic Review and Meta-Analysis.Journal of clinical medicine · 2026Review
- TERT promoter C228T and C250T mutation detection combined with cytology in the diagnosis of urothelial carcinomas: a real-world cohort study in a Chinese population.Cancer cell international · 2026Article
- Liquid biopsy-guided kidney-sparing management in upper tract urothelial carcinoma: from preoperative risk stratification to perioperative surveillance.Frontiers in oncology · 2026Review
- The Diagnostic Performance of a Four-Gene Digital Droplet PCR Panel for Urine Liquid Biopsy in Urothelial Bladder Cancer.Diagnostics (Basel, Switzerland) · 2025Article
- The diagnostic performance of a noninvasive urine-based methylation biomarkers Vimentin/POU4F2 to detect bladder carcinoma.BMC cancer · 2025Article
- Article
- Analytical Validation of the CxbladderDiagnostics (Basel, Switzerland) · 2025Article
- Comparison of genetic mutations in bladder cancers that arose following radiotherapy for prostate cancer with those in primary bladder cancers.Scientific reports · 2025Article
- What is the relationship between microorganisms in the human body and upper tract urothelial carcinoma?Frontiers in immunology · 2025Review
- Diagnostic status and new explorations in upper urinary tract urothelial carcinoma: a literature review.Translational andrology and urology · 2024Review
- A urine-based liquid biopsy for detection of upper tract urothelial carcinoma: a self-matched study.BMC cancer · 2024Article
- Analytical Validation of CxbladderDiagnostics (Basel, Switzerland) · 2024Article
7 more citing papers are in PubMed but not listed here.
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Authors and funding
21 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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 (cfDNA) in urine supernatant to develop a reliable diagnostic biomarker for UTUC patients. We studied urinary cfDNA from 153 individuals, including 56 patients with localized UTUC, and carried out droplet digital PCR assay for TERT promoter and FGFR3 hotspot mutations. We could detect mutations of TERT C228T in 22/56 (39.3%), TERT C250T in 4/56 (7.1%), and FGFR3 S249C in 9/56 (16.1%) patients. FGFR3 mutation was detected only in ≤pT1 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 FGFR3 in urinary cfDNA has the potential to be a non-invasive diagnostic marker and reliable factor for tumor staging.
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