Telomerase Reverse Transcriptase-Promoter Mutation in Young Patients with Bladder Tumors

Area of Science:

• Oncology
• Genetics
• Urology

Background:

• The TERT gene promoter mutation is a frequent event in urothelial bladder tumors, linked to tumor progression.
• Understanding TERT promoter mutations in younger patients is crucial for insights into carcinogenesis.

Purpose of the Study:

• To investigate the prevalence of TERT promoter mutations (C228T and C250T) in urothelial bladder tumors diagnosed in patients aged 40 years or younger.
• To analyze the association between TERT promoter mutations and tumor characteristics, recurrence-free survival (RFS), and progression-free survival (PFS).

Main Methods:

• Molecular analysis to detect C228T and C250T mutations in the TERT promoter region.
• Retrospective study of 29 patients with a mean follow-up of 152 months.
• Comparison of clinical and pathological features, RFS, and PFS between patients with and without TERT promoter mutations.

Main Results:

• No significant differences were found in clinical or tumor characteristics based on the presence or absence of TERT promoter mutations.
• Patients with TERT promoter mutations showed a trend towards poorer RFS, but this did not reach statistical significance.
• No significant difference in PFS was observed between the mutation and non-mutation groups.

Conclusions:

• TERT promoter mutations occur less frequently in younger patients with bladder tumors compared to older individuals, suggesting potentially different carcinogenic pathways.
• The observed trend of lower RFS in younger patients with mutated TERT warrants further investigation in larger cohorts due to the low incidence of bladder cancer in this demographic.