Background

Head and neck cancer is the seventh most common malignancy globally. Head and neck squamous cell carcinoma (HNSCC) originates from squamous cells and 90% of HNC are HNSCC. The gold standard for diagnosing HNSCC is tissue biopsy. However, given tumour heterogeneity, biopsies may miss important cancer-associated molecular signatures, and more importantly, after the tumour is excised, there is no means of tracking response to treatment in patients. Captured under liquid biopsy, circulating tumour DNA (ctDNA), may identify in vivo molecular genotypes and complements tumour tissue analysis in cancer management. A systematic search was conducted in PubMed, Embase, Scopus and the Cochran Library between 2012 to early 2023 on ctDNA in HNSCC using publications written in English. We summarise 20 studies that compared mutational profiles between tumour tissue DNA (tDNA) and ctDNA, using a cohort of 631 HNSCC patients and 139 controls. Among these studies, the concordance rates varied greatly and the most mutated and the most concordant gene was TP53, followed by PIK3CA, CDKN2A, NOTCH1 and FAT1. Concordant variants were mainly found in Stage IV tumours, and the mutation type is mostly single nucleotide variants (SNV). We conclude that, as a biomarker for HNSCC, ctDNA demonstrates great promise as it recapitulates tumour genotypes, however additional multi-central trials are needed.

中文翻译：

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头颈鳞状细胞癌肿瘤组织 DNA 和循环肿瘤 DNA 突变谱的比较——系统评价

背景

头颈癌是全球第七大常见恶性肿瘤。头颈鳞状细胞癌（HNSCC）起源于鳞状细胞，90%的HNC是HNSCC。诊断 HNSCC 的金标准是组织活检。然而，考虑到肿瘤的异质性，活检可能会错过重要的癌症相关分子特征，更重要的是，在肿瘤切除后，无法追踪患者对治疗的反应。在液体活检中捕获的循环肿瘤 DNA (ctDNA) 可以识别体内分子基因型，并补充癌症管理中的肿瘤组织分析。2012 年至 2023 年初，PubMed、Embase、Scopus 和 Cochran 图书馆使用英文出版物对 HNSCC 的 ctDNA 进行了系统检索。我们总结了 20 项研究，这些研究比较了肿瘤组织 DNA (tDNA) 和 ctDNA 之间的突变谱，使用了 631 名 HNSCC 患者和 139 名对照者组成的队列。这些研究中，一致性率差异很大，突变最多、一致性最高的基因是TP53，其次是PIK3CA、CDKN2A、NOTCH1和FAT1。一致变异主要见于IV期肿瘤，突变类型多为单核苷酸变异（SNV）。我们的结论是，作为 HNSCC 的生物标志物，ctDNA 表现出巨大的前景，因为它概括了肿瘤基因型，但还需要额外的多中心试验。