Telomerase activity imparts eukaryotic cells with unlimited proliferation capacity, one of the cancer hallmarks. Over 90% of human urothelial carcinoma of the bladder (UCB) tumours are positive for telomerase activity. Telomerase activation can occur through several mechanisms. Mutations in the core promoter region of the human telomerase reverse transcriptase gene (TERT) cause telomerase reactivation in 60–80% of UCBs, whereas the prevalence of these mutations is lower in urothelial cancers of other origins. TERT promoter mutations are the most frequent genetic alteration across all stages of UCB, indicating a strong selection pressure during neoplastic transformation. TERT promoter mutations could arise during regeneration of normal urothelium and, owing to consequential telomerase reactivation, might be the basis of UCB initiation, which represents a new model of urothelial cancer origination. In the future, TERT promoter mutations and telomerase activity might have diagnostic and therapeutic applications in UCB.

端粒酶活性赋予真核细胞无限的增殖能力，这是癌症的标志之一。超过90％的人类膀胱尿路上皮癌（UCB）肿瘤端粒酶活性呈阳性。端粒酶激活可通过多种机制发生。人类端粒酶逆转录酶基因（TERT）核心启动子区域的突变会导致60-80％的UCB端粒酶重新激活，而这些突变的发生率在其他来源的尿路上皮癌中较低。TERT启动子突变是UCB所有阶段中最常见的遗传改变，表明在肿瘤转化过程中有很强的选择压力。TERT在正常尿道上皮的再生过程中可能会出现启动子突变，由于端粒酶的再激活，这可能是UCB启动的基础，它代表了尿道上皮癌起源的新模型。将来，TERT启动子突变和端粒酶活性可能在UCB中具有诊断和治疗应用。