膀胱癌（BLCA）是一种分子异质性疾病，具有已知的独特遗传特征。然而，DNA 甲基化在多种肿瘤中非常普遍，表明其在肿瘤发生中的潜力。在这里，我们的目的是探讨 BLCA 中九种表观遗传改变作为诊断和预后标志物的作用。DNA 甲基化、基因表达和临床病理信息是从癌症基因组图谱数据门户检索的。评估甲基化值和基因表达以确定它们与正常和恶性组织的关联。此外，我们研究了甲基化值与临床病理变量之间的关联。对于预后模型，生成了 Kaplan-Meier 生存曲线。最后，进行单变量和多变量分析，以评估甲基化和临床病理变量对肿瘤进展和生存风险的同时影响。我们研究中涉及的九个 CpG 位点的甲基化 β $$ \beta $$ -值显示了不同的甲基化特征正常和恶性尿路上皮。肿瘤组织中高甲基化的 CpG 过多 (p<<0.0001)。相反，肿瘤样本中的 4 个 CpG 位点显示出较低的甲基化值 (p<<0.0001)。 Cg12743248high和cg17192862low是无进展生存的危险因素，而cg12374721high（HR：3.003（1.283-7.030））也被证明是疾病进展最有价值的独立危险因素和总生存的危险因素。我们已经确定甲基化cg12374721 显示出作为 BLCA 进展的诊断和独立预后标志物的前景。© 2023 日本泌尿外科协会。

Bladder cancer (BLCA) is a molecular heterogeneous disease with known genetic distinctive signatures. However, DNA methylation is highly prevalent across a wide range of tumors, suggesting its potential in oncogenesis. Here, we aimed to interrogate the role of nine epigenetic alterations as diagnostic and prognostic markers in BLCA.DNA methylation, gene expression, and clinicopathological information were retrieved from The Cancer Genome Atlas data portal. Methylation values and gene expression were assessed to determine their association with normal and malignant tissue. Additionally, we studied the association between methylation values and clinicopathological variables. For the prognostic model, Kaplan-Meier Survival curves were generated. Lastly, univariate and multivariate analysis were performed to evaluate the simultaneous impact of methylation and clinicopathological variables on the risk of tumor progression and survival.Nine CpG sites' methylation β $$ \beta $$ -values involved in our study demonstrated different methylation signatures between normal and malignant urothelium. Hypermethylated CpGs were overrepresented in tumor tissue (p < 0.0001). Opposingly, 4 CpG sites showed lower methylation values in tumor samples (p < 0.0001). Cg12743248high and cg17192862low are risk factors for progression-free survival, whereas cg12374721high (HR:3.003 (1.283-7.030)) also demonstrated to be the most valuable independent risk factor for disease progression and a risk factor for overall survival.We have identified that methylated cg12374721 shows promise as a diagnostic and independent prognostic marker in BLCA progression.© 2023 The Japanese Urological Association.