端粒酶活性在癌症的发生和进展中起着至关重要的作用。因此，通过端粒酶逆转录酶 (TERT) 启动子中突变和表观遗传改变的相互作用来激活端粒酶，可以进一步了解膀胱癌的诱导和进展。在这项研究中，选择了 100 个膀胱肿瘤组织，并分析了四种分子特征：甲基化状态、TERT 启动子突变、端粒长度和 TERT 表达。在我们的研究中，88% 的膀胱癌患者 THOR 区域存在高甲基化，60% 的 TERT 启动子区域存在突变。在膀胱癌的所有阶段和级别中均观察到 TERT 启动子甲基化。同时，TERT启动子突变在晚期和分级中被检测到。在我们的队列中，在非侵袭性膀胱癌病例中发现了高水平的 TERT 表达和长端粒，且 TERT 表达和端粒长度之间存在显着相关性。有趣的是，TERT 表达低的患者和端粒长的患者的无病生存期和总生存期显着延长。TERT 启动子中发生的甲基化和突变与膀胱癌发生有关，提供了额外的预后，并为癌症中端粒生物学提供了新的见解.版权所有 © 2024 Elsevier Inc. 保留所有权利。

Telomerase activity plays a crucial role in cancer development and progression. Thus, telomerase activation through the interplay of mutations and epigenetic alterations in the telomerase reverse transcriptase (TERT) promoter may provide further insight into bladder cancer induction and progression.In this study 100 bladder tumour tissues were selected, and four molecular signatures were analysed: THOR methylation status, TERT promotor mutation, telomere length, and TERT expression.In our study, 88% of bladder cancer patients had an hypermethylation of the THOR region and 60% had mutations in the TERT promoter region. TERT promoter methylation was observed in all stages and grades of bladder cancer. While, TERT promoter mutations were detected in advanced stages and grades. In our cohort, high levels of TERT expression and long telomeres have been found in noninvasive cases of bladder cancer, with a significant association between TERT expression and Telomere length. Interestingly, patients with low TERT expression and cases with long telomeres had significantly longer Disease-free survival and overall survival.The methylation and mutations occurring in the TERT promoter are implicated in bladder carcinogenesis, offering added prognostic and supplying novel insight into telomere biology in cancer.Copyright © 2024 Elsevier Inc. All rights reserved.