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  6. Analysis Of The Diagnostic Performance Of Pax1/sox1 Gene Methylation In Cervical Precancerous Lesions And Its Role In Triage Diagnosis

Analysis of the diagnostic performance of PAX1/SOX1 gene methylation in cervical precancerous lesions and its role in triage diagnosis

Chunli Fan1, Junbo Hu2, Ting Luo3

  • 1Department of Scientific Research and Teaching Management Department, Maternal and Child Health Hospital of Hubei Province, Wuhan, China.

Journal of Medical Virology
|May 10, 2024

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View abstract on PubMed

Summary
This summary is machine-generated.

This study shows that PAX1/SOX1 gene methylation testing is effective for diagnosing cervical precancerous lesions. This epigenetic marker holds significant value for triage diagnosis in cervical cancer screening.

Area of Science:

  • Epigenetics
  • Oncology
  • Molecular Diagnostics

Background:

  • DNA methylation patterns are crucial epigenetic alterations linked to various diseases, including cancer.
  • Methylation panels offer insights into disease-specific patterns, aiding in diagnosis and prognosis.
  • The diagnostic utility of methylation panels targeting the sex-determining region Y-box 1 (SOX1) and paired box gene 1 (PAX1) for cervical lesions remains under-explored.

Purpose of the Study:

  • To evaluate the diagnostic performance of PAX1/SOX1 gene methylation for detecting cervical precancerous lesions.
  • To assess the potential of PAX1/SOX1 methylation as a triage diagnostic tool.
  • To analyze the sensitivity, specificity, and area under the curve (AUC) of PAX1/SOX1 methylation detection.

Main Methods:

  • A cohort of 181 patients with abnormal HPV-DNA or cytology results underwent colposcopy, cytology, HPV testing, and PAX1/SOX1 methylation detection.
Keywords:
PAX1/SOX1 genesdiagnostic efficacymethylation detectiontriage

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  • Patients were histopathologically classified into control, cervical intraepithelial neoplasia grades 1-3 (CIN1-3), and cervical cancer (CC) groups.
  • Diagnostic performance metrics including methylation positivity rates, sensitivity, specificity, and AUC were calculated.
  • Main Results:

    • PAX1/SOX1 methylation positivity rates were significantly higher in CIN2 (100%), CIN3 (90%), and CC (100%) groups compared to controls (17.1%) and CIN1 (22.5%).
    • AUC values for PAX1 methylation in diagnosing CIN2+ and CIN3+ were 0.88 and 0.88, respectively. For SOX1, AUC values for CIN2+ and CIN3+ were 0.80 and 0.92, respectively.
    • In HPV16/18-negative patients, methylation detection achieved 100% sensitivity for CIN2+ and CIN3+, with specificities of 83.0% and 81.1%, respectively. The methylation test also showed potential in a triage setting, with a 22.29% colposcopy referral rate among eligible patients.

    Conclusions:

    • PAX1/SOX1 gene methylation detection demonstrates strong diagnostic efficacy for cervical precancerous lesions.
    • This methylation panel is a valuable tool for triage diagnosis in cervical cancer screening programs.
    • Further research can explore integrating this epigenetic marker into routine cervical cancer screening protocols.