唾液 DNA 基因突变对以口腔癌为重点的头颈部癌症无创诊断的影响。
The implications of gene mutations in salivary DNA for noninvasive diagnosis of head and neck cancer with a focus on oral cancer.
机构信息
Department of Oral and Maxillofacial Surgery, Zhang Zhiyuan Academician Workstation, Hainan Western Central Hospital, Shanghai Ninth People's Hospital, Danzhou, China; College of Stomatology, Shanghai Jiao Tong University, National Center for Stomatology, National Clinical Research Center for Oral Diseases, Shanghai Key Laboratory of Stomatology, Shanghai, China; Department of Oral and Maxillofacial-Head and Neck Oncology, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
College of Stomatology, Shanghai Jiao Tong University, National Center for Stomatology, National Clinical Research Center for Oral Diseases, Shanghai Key Laboratory of Stomatology, Shanghai, China; Department of Oral and Maxillofacial-Head and Neck Oncology, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
出版信息
Oral Oncol. 2022 Jul;130:105924. doi: 10.1016/j.oraloncology.2022.105924. Epub 2022 May 17.
DNA-based liquid biopsy as a diagnostic strategy of head and neck squamous cell carcinoma (HNSCC) has emergingly gained momentum. In this letter, we identified 6 studies contained 274 patients with HNSCC focused on gene mutations in salivary DNA. We observe that the incidence of DNA mutations with at least one gene mutated ranges from 63% to 95.9%, and the most frequently examined gene mutations are TP53, CDKN2A, PIK3CA, FAT1, and NOTCH1. Meanwhile, studies have demonstrated that saliva had a greater sensitivity and much higher quantitative values than plasma in both tumor DNA count and variant allele frequency. Interestingly, more tumor-derived mutations were detected in salivary DNA among patients with tumors arising in oral cavity compared to in oropharynx, larynx, and hypopharynx. Collectively, it is feasibility to identify somatic mutations in driver genes using saliva samples to noninvasively diagnose HNSCC, especially in oral cavity cancer and even at early stages of the disease. Larger well-designed studies are needed to consolidate the evidence.
基于 DNA 的液体活检作为头颈部鳞状细胞癌 (HNSCC) 的诊断策略，已逐渐受到关注。在这封信中，我们确定了 6 项研究，共包含 274 名 HNSCC 患者，重点关注唾液 DNA 中的基因突变。我们观察到，至少有一个基因突变的 DNA 突变发生率为 63%至 95.9%，最常检测到的基因突变是 TP53、CDKN2A、PIK3CA、FAT1 和 NOTCH1。同时，研究表明，在肿瘤 DNA 计数和变异等位基因频率方面，唾液的敏感性和定量值均高于血浆。有趣的是，与口咽、喉和下咽癌相比，在口腔肿瘤患者的唾液 DNA 中检测到更多的肿瘤源性突变。总之，使用唾液样本识别驱动基因的体细胞突变来非侵入性诊断 HNSCC 是可行的，特别是在口腔癌中，甚至在疾病的早期阶段。需要更大规模的精心设计的研究来巩固证据。
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