Head and neck squamous cell carcinoma (HNSCC) is the sixth most common cancer worldwide and is associated with high mortality. The main reasons for treatment failure are a low rate of early diagnosis, high relapse rates, and distant metastasis with poor outcomes. These are largely due to a lack of diagnostic, prognostic, and predictive biomarkers in HNSCC. DNA methylation has been demonstrated to play an important role in the pathogenesis of HNSCC, and recent studies have also valued DNA methylation as a potential biomarker in HNSCC. This review summarizes the current knowledge on DNA methylation profiles in HPV-positive and HPV-negative HNSCC and how these may contribute to the pathogenesis of HNSCC. It also summarizes the potential value of DNA methylation as a biomarker in the diagnosis, prognosis, and prediction of the response to therapy. With the recent immunotherapy era in head and neck treatment, new strategies to improve immune responses by modulating TIMEs have been intensely investigated in early-phase trials. Therefore, this study additionally summarizes the role of DNA methylation in the regulation of TIMEs and potential predictive immunotherapy response biomarkers. Finally, this study reviews ongoing clinical trials using DNA methylation inhibitors in HNSCC.
头颈部鳞状细胞癌是全球第六大常见癌症，死亡率较高。治疗失败的主要原因包括早期诊断率低、复发率高以及远处转移预后不良。这在很大程度上归因于头颈部鳞状细胞癌缺乏诊断、预后和预测性生物标志物。DNA甲基化已被证实在头颈部鳞状细胞癌的发病机制中发挥重要作用，近期研究也认识到DNA甲基化作为该疾病潜在生物标志物的价值。本综述总结了目前关于HPV阳性与HPV阴性头颈部鳞状细胞癌中DNA甲基化谱的研究进展，及其在疾病发生发展中的作用机制。同时系统阐述了DNA甲基化作为诊断标志物、预后指标及治疗反应预测因子的潜在价值。随着头颈部肿瘤治疗进入免疫治疗新时代，通过调控肿瘤免疫微环境增强免疫应答的新策略已在早期临床试验中深入开展。因此，本研究进一步综述了DNA甲基化在肿瘤免疫微环境调控中的作用及其作为免疫治疗反应预测生物标志物的潜力，最后总结了当前头颈部鳞状细胞癌DNA甲基化抑制剂临床试验的研究进展。
肿瘤(癌症)患者之家