Oral squamous cell carcinoma (OSCC) remains one of the most common malignancies in the head and neck region, often preceded by a spectrum of oral potentially malignant disorders (OPMDs). Despite advances in diagnostic methods, reliable and non-invasive biomarkers for early detection and prognostic stratification are still lacking. In recent years, circulating cell-free DNA (cfDNA) has emerged as a promising liquid biopsy tool in several solid tumors, offering insights into tumor burden, heterogeneity, and molecular dynamics. However, its application in oral oncology remains underexplored. This study aims to review and discuss the current evidence on cfDNA quantification and mutation analysis (including TP53, NOTCH1, and EGFR) in patients with OPMDs and OSCC. Particular attention is given to cfDNA fragmentation patterns, methylation signatures, and tumor-specific mutations as prognostic and predictive biomarkers. Moreover, we highlight the challenges in standardizing pre-analytical and analytical workflows in oral cancer patients and explore the potential role of cfDNA in monitoring oral carcinogenesis. Understanding cfDNA dynamics in the oral cavity might offer a novel, minimally invasive strategy to improve early diagnosis, risk assessment, and treatment decision-making in oral oncology.
口腔鳞状细胞癌（OSCC）是头颈部最常见的恶性肿瘤之一，其发生常伴随一系列口腔潜在恶性病变（OPMDs）。尽管诊断方法不断进步，但早期检测和预后分层仍缺乏可靠且无创的生物标志物。近年来，循环游离DNA（cfDNA）在多种实体肿瘤中已成为一种有前景的液体活检工具，为肿瘤负荷、异质性和分子动态提供了重要信息。然而，其在口腔肿瘤学中的应用仍处于探索阶段。本研究旨在回顾和探讨当前关于OPMDs和OSCC患者中cfDNA定量及突变分析（包括TP53、NOTCH1和EGFR）的证据，重点关注cfDNA片段化模式、甲基化特征及肿瘤特异性突变作为预后和预测性生物标志物的潜力。此外，我们强调了口腔癌患者分析前和分析工作流程标准化面临的挑战，并探讨了cfDNA在监测口腔癌变过程中的潜在作用。理解口腔环境中cfDNA的动态变化，可能为口腔肿瘤学提供一种新型微创策略，以改善早期诊断、风险评估和治疗决策。
肿瘤(癌症)患者之家