ArticleBMC oral health2026
Aberrant DNA methylation of SOX1 and PAX1 as epigenetic biomarkers and prognostic indicators in oral squamous cell carcinoma: a single-centre retrospective study.
Article in BMC oral health, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
backgroundAberrant DNA methylation is a cancer hallmark with diagnostic and prognostic potential. This study aimed to investigate the methylation status of SOX1 and PAX1 in oral squamous cell carcinoma (OSCC) tissues and adjacent normal tissues, and explore their associations with clinicopathological features and patient prognosis.
methodsA single-center retrospective cohort of 164 OSCC patients was analyzed. Methylation levels of SOX1 and PAX1 were detected using quantitative methylation-specific PCR (Q-MSP) in formalin-fixed paraffin-embedded (FFPE) tumor tissues and 88 matched normal tissues. Associations with clinicopathological parameters (tumor size, lymph node metastasis, clinical stage) and survival outcomes.
resultsOSCC tumor tissues exhibited significantly higher methylation indices (M-index) for both SOX1 (273.32 vs. 93.57, P = 0.039) and PAX1 (720.92 vs. 108.52, P < 0.0001) compared to adjacent normal tissues, with methylation positivity rates of 56.71% and 73.78%, respectively. Stratified analysis revealed SOX1 methylation positivity was strongly associated with larger tumor size (T stage, χ²=8.04, P = 0.045), lymph node metastasis (N stage, χ²=4.27, P = 0.039), and advanced clinical stage (χ²= 8.33, P = 0.040). Kaplan-Meier survival analysis showed patients with SOX1-methylated tumors had significantly shorter DFS (hazard ratio [HR] = 0.53, 95% CI: 0.31-0.92, P = 0.03), whereas PAX1 methylation status did not correlate with DFS or OS. Combined detection of SOX1 and PAX1 methylation improved sensitivity to 81.71% for OSCC diagnosis.
conclusionPromoter hypermethylation of SOX1 and PAX1 was a frequent event in OSCC, with SOX1 methylation specifically linked to aggressive clinicopathological features and poorer disease-free survival. These findings highlighted SOX1 as a potential prognostic biomarker and PAX1 as a candidate diagnostic marker, warranting further validation in multi-center cohorts to inform epigenetic-targeted strategies in oral oncology.
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