Kojima Takahiro, Kawai Koji, Miyazaki Jun, Nishiyama Hiroyuki
Department of Urology, Faculty of Medicine, University of Tsukuba, 1-1-1 Tennodai, Tsukuba, Ibaraki, 305-8575, Japan.
Int J Clin Oncol. 2017 Apr;22(2):207-213. doi: 10.1007/s10147-016-1068-8. Epub 2016 Nov 29.
Bladder cancer (BC) is classified as non-muscle-invasive BC (NMIBC) or muscle-invasive BC (MIBC). Because the recurrence and mortality rates of BC are high, suitable biomarkers for early detection, evaluation of prognosis, and surveillance of drug responses are needed. Urinary markers simplify surveillance schedules and improve early detection of tumors, especially in NMIBC. Various markers have been identified at DNA, RNA, and protein levels with different sensitivities and specificities. Several biomarkers show a higher sensitivity than urinary cytology, but they are not accurate enough to replace it. In terms of prediction of clinical outcome and treatment response of BC, conventional clinical and pathological parameters are widely used, but the predictive ability of these parameters is limited; therefore, molecular biomarkers in this field are strongly desired. Molecular profiling using fluid and tissue is becoming more feasible with recent developments in next-generation sequencing technologies. Currently, these profiling methods are beginning to be used for early detection, prediction of prognosis, and drug sensitivity. Furthermore, several groups used transcriptome profiling to classify MIBC into various distinct subtypes, showing distinct clinical behaviors and responses to chemotherapy and immune checkpoint inhibitors. The aim of this review is to provide a summary of the most relevant biomarkers that have been investigated as diagnostic and prognostic indicators of BC.
膀胱癌（BC）分为非肌层浸润性膀胱癌（NMIBC）和肌层浸润性膀胱癌（MIBC）。由于膀胱癌的复发率和死亡率较高，因此需要适用于早期检测、预后评估和药物反应监测的生物标志物。尿液标志物简化了监测流程，提高了肿瘤的早期检测率，尤其是在非肌层浸润性膀胱癌中。已经在DNA、RNA和蛋白质水平鉴定出了各种具有不同敏感性和特异性的标志物。几种生物标志物的敏感性高于尿液细胞学检查，但它们的准确性还不足以取代尿液细胞学检查。在预测膀胱癌的临床结局和治疗反应方面，传统的临床和病理参数被广泛应用，但其预测能力有限；因此，该领域强烈需要分子生物标志物。随着下一代测序技术的最新发展，利用体液和组织进行分子谱分析变得越来越可行。目前，这些谱分析方法已开始用于早期检测、预后预测和药物敏感性检测。此外，一些研究小组利用转录组谱分析将肌层浸润性膀胱癌分为各种不同的亚型，这些亚型表现出不同的临床行为以及对化疗和免疫检查点抑制剂的反应。本综述的目的是总结已被研究作为膀胱癌诊断和预后指标的最相关生物标志物。
