Recently, an increasing incidence of HPV-induced oropharyngeal squamous cell carcinoma (OPSCC) has been observed. Moreover, locoregionally advanced stages require a combined modal approach, and the prognosis is poor. Therefore, it is essential to find early diagnostic and prognostic biomarkers. DNA methylation changes play a crucial role in the process of carcinogenesis and are often investigated as promising biomarkers in many types of cancer. For analysis of DNA methylation levels of selected tumour suppressor genes in HPV-positive and HPV-negative samples (including primary tumours and corresponding metastases of metastasizing OPSCCs, primary tumours of non-metastasizing OPSCCs, and control samples), methylation-specific MLPA and methylation-specific high-resolution melting analyses were used. A significant difference in methylation between OPSCCs and the control group was observed in WT1, PAX6 (P < 0.01) and CADM1, RARβ (P < 0.05) genes. CADM1 and WT1 hypermethylation was detected mostly in HPV-positive samples; all but one HPV-negative samples were unmethylated. Moreover, hypermethylation of PAX5 gene was observed in metastases compared with control samples and was also associated with shorter overall survival of all patients (P < 0.05). Associations described herein between promoter methylation of selected genes and clinicopathological data could benefit OPSCC patients in the future by improvement in screening, early detection, and prognosis of the disease.

• Keywords
• Biomarker, DNA methylation, epigenetics, head and neck cancer, human papillomavirus, oropharyngeal cancer,
• MeSH
• PAX5 Transcription Factor genetics   MeSH
• Alphapapillomavirus * MeSH
• Cell Adhesion Molecule-1 genetics   metabolism   MeSH
• Squamous Cell Carcinoma of Head and Neck genetics   MeSH
• DNA metabolism   MeSH
• Papillomavirus Infections * complications   MeSH
• Humans MeSH
• DNA Methylation MeSH
• Head and Neck Neoplasms * genetics   MeSH
• Oropharyngeal Neoplasms * pathology   MeSH
• Papillomaviridae MeSH
• Prognosis MeSH
• WT1 Proteins genetics   metabolism   MeSH
• Check Tag
• Humans MeSH
• Publication type
• Journal Article MeSH
• Research Support, Non-U.S. Gov't MeSH
• Names of Substances
• PAX5 Transcription Factor MeSH
• Cell Adhesion Molecule-1 MeSH
• CADM1 protein, human MeSH Browser
• DNA MeSH
• PAX5 protein, human MeSH Browser
• PAX6 protein, human MeSH Browser
• WT1 Proteins MeSH
• retinoic acid receptor beta MeSH Browser
• WT1 protein, human MeSH Browser