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Background <p>Aberrant 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.</p> Methods <p>A 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.</p> Results <p>OSCC tumor tissues exhibited significantly higher methylation indices (M-index) for both SOX1 (273.32 vs. 93.57, <i>P</i> = 0.039) and PAX1 (720.92 vs. 108.52, <i>P</i> &lt; 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, <i>P</i> = 0.045), lymph node metastasis (N stage, χ²=4.27, <i>P</i> = 0.039), and advanced clinical stage (χ²= 8.33, <i>P</i> = 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, <i>P</i> = 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.</p> Conclusion <p>Promoter 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.</p>

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Aberrant DNA methylation of SOX1 and PAX1 as epigenetic biomarkers and prognostic indicators in oral squamous cell carcinoma: a single-centre retrospective study

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年2月2日

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  • YɑnDie Lin,
  • XiaoYue Li,
  • LiWei Shao,
  • ZiYu Ma,
  • AiJun Liu,
  • ZhiRui Li

摘要

Background

Aberrant 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.

Methods

A 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.

Results

OSCC 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.

Conclusion

Promoter 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.