Department of Surgical, Oncological and Gastroenterological Science, Urological Clinic, University of Padua, 35128 Padua, Italy.
Department of Medicine, Veneto Institute of Molecular Medicine, University of Padua, 35128 Padua, Italy.
Int J Mol Sci. 2020 Sep 8;21(18):6542. doi: 10.3390/ijms21186542.
Recently, there has been a great effort to develop tests based on non-invasive urinary biomarkers (NMIBCs). These tests are based on the fact that NMIBCs are heterogeneous at the molecular level and can be divided into different molecular groups useful to predict prognosis and response to treatment. The assessment of epigenetic alterations, such as DNA methylation, represents a promising cancer biomarker. DNA methylation is an epigenetic modification that affects gene expression without modifying the DNA sequence. Several studies have highlighted the presence of methylated loci in the context of bladder cancer, indicating its potential application as a diagnostic and prognostic biomarker. One of the novel assays based on a DNA methylation profile, the Bladder EpiCheck, analyzes DNA from spontaneous urine, detecting disease-specific DNA methylation patterns in bladder cancer patients. This test, due to its non-invasive nature and highly promising performance could, in future, become an invaluable tool in the follow-up of bladder cancer patients. Potential new applications could include diagnosis and surveillance of upper-tract disease, for the replacement of invasive testing and ureteroscopy.
最近,人们一直在努力开发基于非侵入性尿液生物标志物(NMIBC)的检测方法。这些检测方法基于以下事实,即 NMIBC 在分子水平上具有异质性,可以分为不同的分子群,这些分子群有助于预测预后和对治疗的反应。评估表观遗传改变,如 DNA 甲基化,是一种很有前途的癌症生物标志物。DNA 甲基化是一种表观遗传修饰,它影响基因表达而不改变 DNA 序列。多项研究强调了膀胱癌中存在甲基化位点,表明其作为诊断和预后生物标志物的潜在应用。基于 DNA 甲基化谱的新型检测方法之一,即膀胱 EpiCheck,分析来自自发尿液的 DNA,检测膀胱癌患者中疾病特异性的 DNA 甲基化模式。该检测方法由于其非侵入性和极具前景的性能,未来可能成为膀胱癌患者随访的宝贵工具。潜在的新应用可能包括上尿路疾病的诊断和监测,以替代有创性检测和输尿管镜检查。