Golestan University of Medical Sciences Repository

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

Hosen, M.I. and Sheikh, M. and Zvereva, M. and Scelo, G. and Forey, N. and Durand, G. and Voegele, C. and Poustchi, H. and Khoshnia, M. and Roshandel, G. and Sotoudeh, M. and Nikmanesh, A. and Etemadi, A. and Avogbe, P.H. and Chopard, P. and Delhomme, T.M. and Foll, M. and Manel, A. and Vian, E. and Weiderpass, E. and Kamangar, F. and Boffetta, P. and Pharaoh, P.D. and Dawsey, S.M. and Abnet, C.C. and Brennan, P. and McKay, J. and Malekzadeh, R. and Calvez-Kelm, F.L. (2020) Urinary TERT promoter mutations are detectable up to 10 years prior to clinical diagnosis of bladder cancer: Evidence from the Golestan Cohort Study. EBioMedicine, 53.

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Background: 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 baseline 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. Funding: French Cancer League, World Cancer Research Fund International, Cancer Research UK, Tehran University of Medical Sciences, the International Agency for Research on Cancer, and the U.S. National Cancer Institute. © 2020

Item Type: Article
Additional Information: cited By 0
Subjects: سیستم ادراری WJ
آسیب شناسی QZ
مقالات نمایه شده محققین دانشگاه در سایت ,Web of Science ,Scopus
Divisions: معاونت تحقیقات و فناوری
Depositing User: GOUMS
Date Deposited: 22 Apr 2020 06:10
Last Modified: 22 Apr 2020 06:10
URI: http://eprints.goums.ac.ir/id/eprint/10596

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