Detection of TERT Promoter Mutations in Urine Precedes the Clinical Diagnosis of Bladder Cancer - Expert Commentary

There is a need for a non-invasive for early detection of bladder cancer (BC). Telomerase reverse transcriptase (TERT) promoter mutations are common in bladder cancer patients. A recent study by Hosen MI et al. in BioMedicine investigated the use of an amplicon-based Ion Torrent sequencing assay (UroMuTERT) and digital PCR assays to examine the use of TERT promoter mutations for BC screening.1 In this case-control study, the investigators included 30 BC cases and 101 controls in the final analysis.
The researchers found that 14 out of 30 cases had TERT promoter mutations in pre-diagnosis urine samples while none of the controls had these mutations (sensitivity 46.67%, specificity 100%). The positive predictive value was 100%, and the negative predictive value was 99.95% (99.93%-99.97%). Longer time intervals between urine collection and BC diagnosis were associated with decreased TERT promoter mutations variant allele frequency. Interestingly, in some patients, these mutations were detected ten years before the clinical BC diagnosis.

Understanding the role of TERT promoter mutations in the early history of bladder cancer development is critical for early detection of this disease. Urine-based molecular testing is a promising screening tool. As with any screening method, prospective testing and a demonstration of improved clinical outcomes based on screening are needed.

Written by: Bishoy M. Faltas, MD, Director of Bladder Cancer Research, Englander Institute for Precision Medicine, Weill Cornell Medicine, New York City, New York


1. Hosen, Md Ismail, Mahdi Sheikh, Maria Zvereva, Ghislaine Scelo, Nathalie Forey, Geoffroy Durand, Catherine Voegele et al. "Urinary TERT promoter mutations are detectable up to 10 years prior to clinical diagnosis of bladder cancer: Evidence from the Golestan Cohort Study." EBioMedicine (2020): 102643.

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