Predictive Molecular Biomarkers of Bladder Cancer Identified by Next-Generation Sequencing-Preliminary Data.

The majority of patients with bladder cancer suffer from tumour recurrence. Identifying prognostic factors for tumour recurrence is crucial for treatment and follow-up in affected patients. The study aimed to assess the impact of somatic mutations in bladder cancer on patient outcomes and tumour recurrence. The study group comprised 46 patients with urothelial bladder cancers referred for transurethral resection of the tumour. A molecular study on tumour-derived DNA was performed using next-generation sequencing. Somatic mutations were screened in 50 genes involved in carcinogenesis. We identified 81 variants in 23 genes, including 54 pathogenic mutations, 18 likely pathogenic variants, and 9 variants of unknown significance. The most frequently mutated genes were , , and in 52%, 35%, and 24% of tumours, respectively. The average tumour-free survival was significantly longer in cases with mutations in the gene ( = 0.02), and mutations in the gene were associated with a decreased risk of tumour recurrence (Hazard Ratio = 0.26; 95% CI: 0.11-0.62; = 0.018). The gene was shown to be a predictive marker of a low risk of bladder tumour recurrence. Molecular screening of bladder cancers supported predictive biomarkers of tumour recurrence and showed that tumour-free survival is molecularly determined.