Renal cell carcinoma (RCC) is characterized by an infrequent number of somatic mutations. By contrast, epigenetic aberrations are commonly found in RCC, indicating that epigenetic reprogramming is an important event in RCC development. Epigenetic alterations comprise several different aberrations, such as changes in histone modifications, DNA methylation, and microRNA levels, and occur in the most important signalling pathways in RCC, such as the von Hippel–Lindau disease tumour suppressor (VHL)–hypoxia-inducible factor (HIF) pathway, the WNT–β-catenin pathway, and pathways involved in epithelial–mesenchymal transition. Owing to their involvement in these pathways and frequent occurrence in RCC, epigenetic alterations are regarded as potential biomarkers for the early detection of disease and for prediction of prognosis and treatment response. In addition, most of these alterations are potentially reversible, so they also provide new targets for therapy. At the moment, epigenetic biomarkers for RCC are not being used in clinical practice, but targeted epigenetic therapies are under investigation. Understanding the extent of epigenetic changes occurring in RCC and the mechanisms by which they influence disease progression and treatment response, as well as knowledge of current research on biomarkers and treatments, is crucial to successful clinical translation of epigenetics in RCC.

肾细胞癌（RCC）的特征是很少发生体细胞突变。相比之下，表观遗传畸变通常出现在RCC中，这表明表观遗传重编程是RCC发展中的重要事件。表观遗传改变包括几种不同的畸变，例如组蛋白修饰，DNA甲基化和microRNA水平的变化，并发生在RCC中最重要的信号传导途径中，例如von​​ Hippel-Lindau疾病抑制因子（VHL）-缺氧诱导因子（HIF）途径，WNT-β-catenin途径以及上皮-间质转化相关的途径。由于它们参与了这些途径并且经常在RCC中发生，表观遗传改变被认为是潜在的生物标志物，用于疾病的早期检测以及预测预后和治疗反应。此外，这些改变大多数都是潜在可逆的，因此它们也为治疗提供了新的靶点。目前，RCC的表观遗传标记尚未在临床实践中使用，但靶向表观遗传疗法正在研究中。了解RCC中表观遗传学变化的程度及其影响疾病进展和治疗反应的机制，以及对生物标志物和治疗方法的最新研究知识，对于成功地在RCC中进行表观遗传学的临床翻译至关重要。