FC 12-08CLINICAL VALIDATION OF POU4F3 METHYLATION AS A NEW BIOMARKER OF CERVICAL PRECANCER AND CANCER IN A TRIAGE OF HRHPV POSITIVE WOMEN

16. Methylation
A. Kocsis 1, M. Benczik 2, T. Takács 3, M. Nyíri 1.
1NEUMANN Diagnostics Ltd., Budapest (Hungary), 2SYNLAB Hungary Ltd., GenoID Molecular Diagnostic Laboratory, Budapest (Hungary), 3Cellcall Ltd., Budapest (Hungary)

Background / Objectives

The ongoing TRACE prospective, multicenter study provided a thorough clinical evaluation of the POU4F3 methylation by using the CONFIDENCE Marker™ RUO test in HPV triage by comparison to cytology triage. A new version of POU4F3 methylation test, called CONFIDENCE Marker™ (IVD-CE) was developed with the intended use of triaging hrHPV positive women aged 30 years or older and giving an indication about the women's current CIN2+ risk.


Methods

CONFIDENCE Marker™ (IVD CE) measures the relative methylation level of the promoter region of the gene called POU4F3 by quantitative methylation specific real-time PCR (qMSP) technology compared to the reference gene COL2A1 (providing a so-called Methylation index). Clinical performance of the CONFIDENCE Marker™ (IVD CE) was assessed on hrHPV positive (CONFIDENCE HPV™) LBC samples (CIN2- n=187; CIN2+ n=26) selected from the TRACE study collected from subjects aged 30 years or older. The results of the CONFIDENCE Marker™ (IVD CE) for CIN2+ and CIN3+ clinical endpoints and their agreement with the CONFIDENCE Marker™ RUO test results in the TRACE study was calculated.


Results

The CONFIDENCE Marker™ (IVD CE) achieved sensitivity of 88.5% (69.8-97.6%) with the relative sensitivity of 0.96 (0.77-1.19) and specificity of 69.6% (47.1-86.8%) with the relative specificity of 1.13 (0.79-1.59) for the histologically confirmed samples and 88.5% (69.8-97.6%) with a relative sensitivity of 0.96 (0.77-1.19) and 75.9% (69.2-81.9%) with a relative specificity of 0.99 (0.88-1.11) calculated on all samples, respectively for CIN2+ histological endpoint in the age group 30-65 of hrHPV positive women. The relative values were assessed by comparison to the CONFIDENCE Marker™ RUO test results in the TRACE study. The overall agreement of the two CONFIDENCE Marker™ test workflow results was 96.2% (80.4-99.9%) and 100% for CIN2+ and CIN3+ endpoints, respectively. The current analysis is focused on the baseline cross-sectional clinical results, the 3 years follow-up of the study is ongoing.


Conclusion

Based on the relative sensitivity and specificity values obtained, TRACE's clinical evaluation of the CONFIDENCE Marker™ RUO can be considered valid for the CONFIDENCE Marker™ (IVD CE) as the results do not show a significant statistical difference.

On the basis of our findings, one of the first IVD-CE validated methylation assay, the new CONFIDENCE Marker™ (IVD CE) detecting the POU4F3 methylation as a triage test of hrHPV positives appears to be a promising method. We can reasonably assume that its quantitative nature offers the potential of an objective and discriminative risk assessment tool in the prevention and diagnostics of high-grade CIN lesions and cervical cancer.


References