Head and neck squamous cell carcinomas (HNSCCs) that develop from the mucosal epithelium in the oral cavity, pharynx, and larynx are a heterogeneous group of malignant tumors. A lack of appropriate screening and diagnostic methods leads to late diagnoses, with the majority of patients having locally advanced disease, which is associated with a high risk of local recurrence and a poor prognosis and is usually treated with combination therapies. Biomarkers for predicting the therapy response and risk of recurrence in HNSCC patients are urgently needed. Liquid biopsy, e.g., the profiling of circulating biomarkers in bodily fluids, is a promising approach with increasing utility in the early detection and diagnosis of cancer, monitoring cancer progression, patient stratification and treatment selection, detecting minimal residual disease (MRD), and predicting recurrence across different cancer types, including HNSCC. Among liquid biomarkers, circulating tumor DNA (ctDNA), which is based on detecting tumor-specific mutations, insertions/deletions, copy number alterations, and methylation, is the most promising transformative tool in cancer management and personalized cancer treatment. In this review, we provide an update of recent data on the role of non-viral ctDNA in the management of HNSCC patients. Accumulating data suggests the enormous potential of ctDNA profiling by serial sampling during and after definitive therapy in detecting MRD and predicting recurrence in HNSSC patients treated with a single treatment modality (surgery or radiotherapy) or with combination therapies, including immune-checkpoint-inhibitor-based immunotherapy. By incorporating the latest immunotherapy trials and organizing the data by the treatment modality, this review offers a novel perspective not found in previous surveys.
头颈部鳞状细胞癌（HNSCC）起源于口腔、咽部和喉部的黏膜上皮，是一组异质性的恶性肿瘤。由于缺乏合适的筛查和诊断方法，多数患者确诊时已处于局部晚期阶段，常伴随高局部复发风险和不良预后，通常需要联合治疗方案。因此，亟需能够预测HNSCC患者治疗反应及复发风险的生物标志物。液体活检，即通过分析体液中循环生物标志物，在癌症早期检测与诊断、监测疾病进展、患者分层与治疗选择、检测微小残留病灶（MRD）以及预测包括HNSCC在内的多种癌症复发方面展现出日益广泛的应用前景。在液体生物标志物中，循环肿瘤DNA（ctDNA）基于检测肿瘤特异性突变、插入/缺失、拷贝数变异和甲基化，已成为癌症管理和个体化治疗中最具潜力的变革性工具。本综述总结了非病毒来源ctDNA在HNSCC患者管理中的最新研究进展。越来越多的数据表明，在确定性治疗期间及治疗后通过连续采样进行ctDNA分析，对于接受单一治疗方式（手术或放疗）或联合治疗（包括基于免疫检查点抑制剂的免疫疗法）的HNSCC患者，在检测MRD和预测复发方面具有巨大潜力。通过整合最新免疫治疗试验数据并按治疗方式分类梳理，本综述提供了以往研究中未涉及的新视角。
肿瘤(癌症)患者之家