Hypermethylated ZNF582 and PAX1 genes in mouth rinse samples as biomarkers for oral dysplasia and oral cancer detection

Background Effective biomarkers for oral cancer screening are important for early diagnosis and treatment of oral cancer. Methods Oral epithelial cell samples collected by mouth rinse were obtained from 65 normal control subjects, 108 patients with oral potentially malignant disorders, and 94 patients with oral squamous cell carcinoma (OSCC). Methylation levels of zinc-finger protein 582 (ZNF582) and paired-box 1 (PAX1) genes were quantified by real-time methylation-specific polymerase chain reaction after bisulfite conversion. Results An abrupt increase in methylated ZNF582 (ZNF582m) and PAX1 (PAX1m) levels and positive rates from mild dysplasia to moderate/severe dysplasia, indicating that both ZNF582m and PAX1m are effective biomarkers for differentiating moderate dysplasia or worse (MODY+) oral lesions. When ZNF582m/PAX1m tests were used for identifying MODY+ oral lesions, the sensitivity, specificity, and odds ratio (OR) were 0.65/0.64, 0.75/0.82, and 5.6/8.0, respectively. Conclusion Hypermethylated ZNF582 and PAX1 genes in oral epithelial cells collected by mouth rinse are effective biomarkers for the detection of oral dysplasia and oral cancer.