Circulating Cell-Free DNA Concentration as a Biomarker in Head and Neck Cancer.

Abstract

Objective: Head and neck squamous cell carcinoma (HNSCC), particularly human papillomavirus (HPV) -negative HNSCC, poses a significant clinical challenge due to late diagnoses and poor survival. This study evaluates the potential of circulating cell-free DNA (ccfDNA) as a minimally invasive biomarker for diagnosis, prognosis and disease monitoring in HNSCC.

Methods: We conducted a multicentre, prospective study enrolling 85 patients across all disease stages and 28 healthy controls, using two quantification ccfDNA methods: fluorometry (Qubit) and quantitative real-time polymerase chain reaction (qPCR).

Results: Baseline plasma ccfDNA concentrations were significantly elevated in HNSCC patients compared to healthy controls, with an area under the curve of 0.705. Higher ccfDNA levels were observed in early-stage HNSCC patients. While ccfDNA levels correlated with age, no significant associations were found with tumour stage or location. Patients with lower post-treatment ccfDNA levels demonstrated longer median progression-free survival (PFS) (16.37 months vs. 9.63 months, p < 0.05). Longitudinal analysis of locally advanced HNSCC revealed significant inter-patient variability in ccfDNA kinetics.

Conclusions: Our study demonstrates the potential value of fluorometric ccfDNA quantification as a diagnostic, prognostic and monitoring biomarker for HNSCC. However, further well-designed studies must be carried out to enhance the clinical utility of ccfDNA as a biomarker for HNSCC management.