与化疗相比，免疫检查点抑制剂（ICIs）在癌症患者中表现出持久的反应、长期的生存益处和改善的结果。然而，大多数癌症患者对 ICI 没有反应，并且对 ICI 治疗有反应的患者中很大一部分对 ICI 产生先天或获得性耐药，从而限制了其临床应用。研究最多的 ICI 反应预测组织生物标志物是 PD-L1 免疫组织化学表达、DNA 错配修复缺陷和肿瘤突变负荷，尽管这些是 ICI 反应的弱预测因子。识别更好的预测性生物标志物仍然是改善识别可从 ICI 中受益的患者的重要目标。在这里，我们回顾了已建立的和新兴的 ICI 反应生物标志物，重点关注癌症患者的表观基因组和基因组改变，这些改变有可能帮助指导单药 ICI 免疫疗法或 ICI 免疫疗法与其他 ICI 免疫疗法或药物的组合。我们简要回顾了 ICI 反应生物标志物（包括研究生物标志物）的现状，并对几种新兴的和有前途的表观基因组生物标志物候选者提出了见解，包括当前在黑色素瘤患者 ICI 免疫治疗反应背景下的知识差距。

Immune checkpoint inhibitors (ICIs) demonstrate durable responses, long-term survival benefits, and improved outcomes in cancer patients compared to chemotherapy. However, the majority of cancer patients do not respond to ICIs, and a high proportion of those patients who do respond to ICI therapy develop innate or acquired resistance to ICIs, limiting their clinical utility. The most studied predictive tissue biomarkers for ICI response are PD-L1 immunohistochemical expression, DNA mismatch repair deficiency, and tumour mutation burden, although these are weak predictors of ICI response. The identification of better predictive biomarkers remains an important goal to improve the identification of patients who would benefit from ICIs. Here, we review established and emerging biomarkers of ICI response, focusing on epigenomic and genomic alterations in cancer patients, which have the potential to help guide single-agent ICI immunotherapy or ICI immunotherapy in combination with other ICI immunotherapies or agents. We briefly review the current status of ICI response biomarkers, including investigational biomarkers, and we present insights into several emerging and promising epigenomic biomarker candidates, including current knowledge gaps in the context of ICI immunotherapy response in melanoma patients.