ArticleEBioMedicine2019
Urinary TERT promoter mutations as non-invasive biomarkers for the comprehensive detection of urothelial cancer.
Article in EBioMedicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers, 1 of them a synthesis that pooled it.
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Who cites it
42 citing papers in PubMed, 1 synthesis or guideline pooled it, 64 citations in OpenAlex.
- A systematic review on mutation markers for bladder cancer diagnosis in urine.BJU international · 2021Pooled it
- Consolidated Evidence and New Frontiers of Liquid Biopsy in Lung Cancer: A Narrative Review.Cells · 2026Review
- Emerging Molecular and Computational Biomarkers in Urothelial Carcinoma: Innovations in Diagnosis, Prognosis, and Therapeutic Response Prediction.Journal of personalized medicine · 2026Review
- The Diagnostic Performance of a Four-Gene Digital Droplet PCR Panel for Urine Liquid Biopsy in Urothelial Bladder Cancer.Diagnostics (Basel, Switzerland) · 2025Article
- Review
- Unleashing the power of urine‑based biomarkers in diagnosis, prognosis and monitoring of bladder cancer (Review).International journal of oncology · 2025Review
- Diagnostic performance of Uromonitor and TERTpm ddPCR urine tests for the non-invasive detection of bladder cancer.Scientific reports · 2024Article
- Microsatellite Instability in Urine: Breakthrough Method for Bladder Cancer Identification.Biomedicines · 2024Review
- Distinct longitudinal patterns of urine tumor DNA in patients undergoing surveillance for bladder cancer.Molecular oncology · 2024Observational
- Novel method for detecting frequent TERT promoter hot spot mutations in bladder cancer samples.Clinical and experimental medicine · 2024Article
- From Detection to Cure - Emerging Roles for Urinary Tumor DNA (utDNA) in Bladder Cancer.Current oncology reports · 2024Review
- Evaluating circulating cell-free DNA and DNA integrity index as biomarkers in non-small cell lung cancer.Journal of the Egyptian National Cancer Institute · 2024Article
- New Perspectives on the Role of Liquid Biopsy in Bladder Cancer: Applicability to Precision Medicine.Cancers · 2024Review
- Analysis of urine cell-free DNA in bladder cancer diagnosis by emerging bioactive technologies and materials.Frontiers in bioengineering and biotechnology · 2024Review
- Circulating and urinary tumour DNA in urothelial carcinoma - upper tract, lower tract and metastatic disease.Nature reviews. Urology · 2023Review
- Liquid Biopsies, Novel Approaches and Future Directions.Cancers · 2023Review
- Vimentin epigenetic deregulation in Bladder Cancer associates with acquisition of invasive and metastatic phenotype through epithelial-to-mesenchymal transition.International journal of biological sciences · 2023Article
- Simplex Droplet Digital PCR Assays for the Detection of TERT Promoter Mutations in Urine Samples for the Non-invasive Diagnosis of Urothelial Cancer.Methods in molecular biology (Clifton, N.J.) · 2023Article
- TERT Promoter Mutation in Benign and Malignant Salivary Gland Tumors; A Cross-Sectional Study.Iranian journal of pathology · 2023Article
- TERT Promoter Mutations as Simple and Non-Invasive Urinary Biomarkers for the Detection of Urothelial Bladder Cancer in a High-Risk Region.International journal of molecular sciences · 2022Article
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Authors and funding
25 authors at 5 institutions in 3 countries.
Funding
Abstract
backgroundRecurrent mutations in the promoter of the telomerase reverse transcriptase (TERT) gene (C228T and C250T) detected in tumours and cells shed into urine of urothelial cancer (UC) patients are putative biomarkers for UC detection and monitoring. However, the possibility of detecting these mutations in cell-free circulating DNA (cfDNA) in blood and urine, or DNA from urinary exfoliated cells (cellDNA) with a single-gene sensitive assay has never been tested in a case-control setting.
methodsWe developed a single-plex assay (UroMuTERT) for the detection of low-abundance TERT promoter mutations. We tested 93 primary and recurrent UC cases and 94 controls recruited in France (blood, urine samples and tumours for the cases), and 50 primary UC cases and 50 controls recruited in Portugal (urinary exfoliated cell samples). We compared our assay with urine cytology.
findingsIn the French series, C228T or C250T were detected in urinary cfDNA or cellDNA in 81 cases (87·1%; 95% CI 78·6-93·2), and five controls (Specificity 94·7%; 95%CI 88·0-98·3), with 98·6% (95% CI 92·5-99·96) concordance in matched tumours. Detection rate in plasma cfDNA among cases was 7·1%. The UroMuTERT sensitivity was (i) highest for urinary cfDNA and cellDNA combined, (ii) consistent across primary and recurrent cases, tumour stages and grades, (iii) higher for low-risk non-muscle invasive UC (86·1%) than urine cytology (23·0%) (P < 0·0001) and (iv) 93·9% when combined with cytology. In the Portuguese series - the sensitivity and specificity for detection of UC with urinary cellDNA was 68·0% (95% CI 53·3-80·5) and 98·0% (95% CI 89·3-100·0).
interpretationTERT promoter mutations detected by the UroMuTERT assay in urinary DNA (cfDNA or cellDNA) show excellent sensitivity and specificity for the detection of UC, significantly outperforming that of urine cytology notably for detection of low-grade early stages UC. FUND: French Cancer League; French Foster Research in Molecular Biology and European Commission FP7 Marie Curie COFUND.
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