越来越多的证据表明，异常表观遗传修饰与癌症的发生密切相关。因此，对表观遗传修饰的敏感和特异性检测可显著改进生物学研究和癌症精准医学。过去几年中，分子成像方法在癌症诊断和预后方面得到了快速发展。各种独特于表观遗传修饰的生物标志物和靶向成像探针已被表征和用于区分癌细胞和健康组织，以及评估治疗反应。在本研究中，我们总结了最新的与表观遗传修饰目标的光学分子成像相关的研究，如涉及 DNA 甲基化、组蛋白修饰、非编码 RNA 调控和染色体重塑等，并进一步回顾它们在癌症诊断和治疗上的临床应用。最后，我们还对癌症表观遗传修饰的精确成像提出了未来方向。在光学分子成像技术和表观遗传药物的有希望的临床和临床前研究的支持下，人们应更加认识和接受表观遗传修饰在癌症中的核心作用。©国际人类表型研究所（上海）2022。

Increasing evidence has demonstrated that abnormal epigenetic modifications are strongly related to cancer initiation. Thus, sensitive and specific detection of epigenetic modifications could markedly improve biological investigations and cancer precision medicine. A rapid development of molecular imaging approaches for the diagnosis and prognosis of cancer has been observed during the past few years. Various biomarkers unique to epigenetic modifications and targeted imaging probes have been characterized and used to discriminate cancer from healthy tissues, as well as evaluate therapeutic responses. In this study, we summarize the latest studies associated with optical molecular imaging of epigenetic modification targets, such as those involving DNA methylation, histone modification, noncoding RNA regulation, and chromosome remodeling, and further review their clinical application on cancer diagnosis and treatment. Lastly, we further propose the future directions for precision imaging of epigenetic modification in cancer. Supported by promising clinical and preclinical studies associated with optical molecular imaging technology and epigenetic drugs, the central role of epigenetics in cancer should be increasingly recognized and accepted.© International Human Phenome Institutes (Shanghai) 2022.