LAUSR

The detection of gene mutations in circulating tumor DNA (ctDNA) through a liquid biopsy is a promising diagnostic method for cancer diagnosis and monitoring, treatment response, and residual disease. In this letter, we identified 13 studies contained 412 patients with HNSCC focused on ctDNA mutations using a panel of genes detected in plasma. We observe that the incidence of ctDNA mutations with at least one gene mutated ranges from 42% to 88%, and the most frequently examined gene mutations are TP53, PIK3CA, CDKN2A, CASP8, and NOTCH1. The main clinical purposes of these studies are to assess the potential of ctDNA mutations as a diagnostic or recurrence monitoring tool in the post-treatment period of HNSCC patients. Among these studies, very few analyses of sensitivity, specificity, and concordance with tumor samples are performed for evaluation of analytical methods and clinical endpoints. On the whole, current evidence on the issue is not robust, and larger well-designed studies are needed to consolidate the evidence.