Feasibility study OncSaliva – non-invasive specimen for the detection of head and neck cancer via epigenetic biomarkers

Background Head and neck squamous cell carcinoma (HNSCC) are mainly diagnosed at advanced tumor stage after the onset of symptoms. Timely detection would improve the options for successful treatment. Here, we investigate five tumor-specific DNA methylation markers in the current OncSaliva study to determine the clinical performance in non-invasive specimen, such as saliva samples.

Methods Tumor marker detection is based on methylation-specific multiplex qPCR assay using bisulfite-treated DNA. The goal is to include 100 controls and 100 HNSCC patients, the latter with 2-year follow-up examination.

Results So far, we analyzed fresh-frozen tissue and saliva from 51 HNSCC patients and 33 controls. DNA methylation markers showed 75% sensitivity and 100% specificity, if three of five markers were required to test positive in tissue. Single marker detection offered up to 83% sensitivity with 97% specificity. In saliva samples the best single marker resulted in 71% sensitivity and 82% specificity. If three out of five markers were positive in saliva, results showed 63% sensitivity and 91% specificity. Comparison of tissue and saliva sample pairs yielded 49% to 78% agreement for the HNSCC group and 73% to 100% agreement in the control group. Data from swab samples and individual patient follow-ups will be presented at the congress.

Conclusion Preliminary results from recent patient samples support our study hypothesis that DNA methylation analysis can robustly detect HNSCC in both, tissue and saliva. Therefore, HNSCC-specific epigenetic markers may provide the basis for a promising novel approach within HNSCC in vitro diagnostics aiming at secondary and tertiary prevention.

Publikationsverlauf

Artikel online veröffentlicht:
12. Mai 2023