Role of Cell-free DNA as a Non-Invasive Biomarker in the Detection of Head and Neck Squamous Cell Carcinoma

Head and neck squamous cell carcinomas (HNSCC) are the sixth leading cancer by incidence worldwide. Small fragments of cell-free DNA (cfDNA) are present in the circulation with elevated levels in cancer patients. Their concentration correlates with tumor size, disease stage, and metastatic burden. Our present study aims to determine the utility of cfDNA as an early screening and diagnostic tool in patients with HNSCC. A cross-sectional study was conducted. The cohort included 35 biopsy-confirmed cases of HNSCC and 35 age and sex-matched healthy controls. cfDNA was extracted using 3 ml plasma with QIAamp Circulating Nucleic acid kit and quantified using UV Spectrophotometry. Mean levels of plasma cfDNA were elevated in patients with HNSCC compared to controls (Mean of 17.10 ng/μl and 15.26 ng/μl, respectively), although the difference was not significant ( p value = 0.244). On comparison of the mean of cfDNA levels between different tumor stages, cfDNA levels in stage IV (26.65 ng/μl) were highest followed by stage III (21.93 ng/μl), stage II (17.43 ng/μl) and stage I (12.12 ng/μl). ROC curve analysis showed that at a cut-off of > 16.8 ng/μl, cfDNA provided 42.8% sensitivity for detecting cancer. cfDNA may have the potential for monitoring disease progression in HNSCC patients in advanced stages. However, non-significant elevation in cfDNA during early stages (Stages I and II) limits its utility as a reliable biomarker for diagnosing the disease at initial stages in HNSCC.