TERT Promoter Mutation as a Potential Predictive Biomarker in BCG-Treated Bladder Cancer Patients

Telomerase reverse transcriptase gene promoter ( ) mutations are recognized as one of the most frequent genetic events in bladder cancer (BC). No studies have focused on the relevance of TERTp mutations in the specific group of tumors treated with Bacillus Calmette-Guérin (BCG) intravesical therapy. Methods - 125 non muscle invasive BC treated with BCG therapy (BCG-NMIBC) were screened for mutations, rs2853669 single nucleotide polymorphism, and Fibroblast Growth Factor Receptor 3 ( ) hotspot mutations. Results - mutations were found in 56.0% of BCG-NMIBC and were not associated with tumor stage or grade. mutations were found in 44.9% of the cases and were not associated with tumor stage or grade nor with mutations. The rs2853669 single nucleotide polymorphism was associated with tumors of higher grade. The specific c.1-146G>A mutation was an independent predictor of nonrecurrence after BCG therapy (hazard ratio-0.382; 95% confidence interval-0.150-0.971, = 0.048). Conclusions - mutations are frequent in BCG-NMIBC and -146G>A appears to be an independent predictive marker of response to BCG treatment with an impact in recurrence-free survival.