Molecular identification of telomerase reverse transcriptase (TERT) promotor mutations in primary and recurrent tumors of invasive and noninvasive urothelial bladder cancer

Abstract

Objective: Telomerase reverse transcriptase (TERT) promotor mutations occur in majority of cancers and are of notably meaning for tumor research. In bladder cancer the TERT promotor mutations exist in all stages and grades and are more frequent than other earlier reported genetic alterations. Here we report TERT promotor mutation status in primary bladder cancer samples related to survival and the risk of recurrence. Additionally we want to compare the TERT promotor mutation status from primary tumor and their recurrent tumor.

Material and methods: For this purpose, we detect TERT promotor mutation status in tumor tissues from 25 invasive and 50 noninvasive urothelial bladder cancer (UBC) patients using Sanger sequencing. Moreover we detect TERT promotor mutation status in the recurrent tumors (n = 21) of these UBC patients.

Results: In 84% (63/75) of our UBC patients we found TERT promotor mutations: 80% (20/25) of invasive and 86% (43/50) of noninvasive tumors. In the recurrent tumors, 2 TERT promotor mutations differ from the primary tumor. Our study reveal, that TERT promotor mutations not significant correlate but show tendency with reduced overall survival and disease specific survival.

Conclusions: Our findings suggest TERT promotor mutations were frequent in invasive and noninvasive UBC, making them potential therapeutic targets and useful as a biomarker in UBC. Detection of tumor cells with TERT promotor mutation in blood or urine could be efficient for the purpose of early detection of UBC and to predict survival of UBC patients.

Keywords: Biomarker; Bladder cancer; TERT.