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Updated: Sep 18, 2025
Detection of Cell-Free DNA in Blood Plasma Samples of Cancer Patients
Published on: September 9, 2020
Circulating Cell-Free DNA Concentration as a Biomarker in Head and Neck Cancer
Ana María Rodríguez-Ces1,2,3, Óscar Rapado-González1,3,4,5,6, Santiago Aguín-Losada7,8
1Department of Surgery and Medical-Surgical Specialties, Medicine and Dentistry School, Universidade de Santiago de Compostela (USC), Santiago de Compostela, Spain.
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.
