The Potential Role of Telomerase Reverse Transcriptase Promoter Mutations asNon-Invasive Urinary Biomarkers in Bladder Cancer Detection: Is the New Droplet Digital Assay (ddPCR) Reliable to be Clinically Used?

Background: Bladder cancer is the second most common cancer of the genitourinary system. The main components of disease follow-up include periodic cystoscopy and urinary cytology. Due to the aggressive nature of cystoscopy, the researchers are looking for less invasive tests.

Purpose: There is no accepted screening test for bladder cancer. Recently, Telomerase Reverse Transcriptase gene mutations have been hailed as the most common bladder cancer mutations. UroMuTERT® and ddPCR tests evaluate the mutations in the urinary DNA. This study aims to evaluate the validity of these tests for clinical use and mass screening.

Patients and Methods: In this cross-sectional study, patients with bladder cancer and healthy controls were evaluated. The patients underwent a complete transurethral resection of tumor. Urine samples were examined for urinary cytology, ddPCR (Droplet Digital PCR test) and UroMuTERT® PCR test. The UroMuTERT® test measures C228T and C250T mutations, and ddPCR test, also measures two other mutations, C228A and CC242-243TT.

Results: 31 primary or recurrent bladder cancer cases and 50 controls were evaluated. C228T and C250T mutations were the most common mutations. Sensitivity and specificity of ddPCR and UroMuTERT® tests were calculated to be 64.5% and 90%, respectively. In addition, the diagnostic sensitivity of ddPCR test increased in high-grade tumors and MIBC tumors.

Conclusion: TERT promoter mutations could be a way for detection of bladder cancer. The available evidence does not allow clinical use. Although these biomarkers will be helpful to detect the presence of tumor, they cannot replace the cystoscopy. They may be helpful to reduce or delay cystoscopies.

Author(s): Seyed Omidreza Anvari*, Armita Shahesmaeili, Hamid Pakmanesh

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