Urinary TERT promoter mutations are detectable up to 10 years prior to clinical diagnosis of bladder cancer: Evidence from the Golestan Cohort Study

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AuteurHOSEN, MD ISMAIL
AuteurAVOGBE, PATRICE HODONOU
Date d'ajout2026-06-02T16:06:57Z
Date de disponibilite2026-06-02T16:06:57Z
Date de publication2020
ResumeBackground: Detecting pre-clinical bladder cancer (BC) using urinary biomarkers may provide a valuable opportunity for screening and management. Telomerase reverse transcriptase (TERT) promoter mutations detectable in urine have emerged as promising BC biomarkers. Methods: We performed a nested case-control study within the population-based prospective Golestan Cohort Study (50,045 participants, followed up to 14 years) and assessed TERT promoter mutations in base- line urine samples from 38 asymptomatic individuals who subsequently developed primary BC and 152 matched controls using a Next-Generation Sequencing-based single-plex assay (UroMuTERT) and droplet digital PCR assays. Findings: Results were obtained for 30 cases and 101 controls. TERT promoter mutations were detected in 14 pre-clinical cases (sensitivity 46¢67%) and none of the controls (specificity 100¢00%). At an estimated BC cumulative incidence of 0¢09% in the cohort, the positive and negative predictive values were 100¢00% and 99¢95% respectively. The mutant allelic fractions decreased with the time interval from urine collection until BC diagnosis (p = 0¢033) but the mutations were detectable up to 10 years prior to clinical diagnosis. Interpretation: Our results provide the first evidence from a population-based prospective cohort study of the potential of urinary TERT promoter mutations as promising non-invasive biomarkers for early detection of BC. Further studies should validate this finding and assess their clinical utility in other longitudinal cohorts.
DOI10.1016/j.ebiom.2020.102643
Autre identifiantBECDB-12549
URIhttps://dspace.uac.bj/handle/123456789/10828
Languefr
Fait partie deEBioMedicine
SujetEarly detection
SujetTERT promoter mutations Urinary biomarker Bladder cancer Prospective cohort
TitreUrinary TERT promoter mutations are detectable up to 10 years prior to clinical diagnosis of bladder cancer: Evidence from the Golestan Cohort Study
TypeArticle

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