ArticleJournal of gynecologic oncology2026
Diagnostic accuracy of the droplet digital PCR POLE mutation test in endometrial cancer: comparison with Sanger sequencing and NGS.
Article in Journal of gynecologic oncology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed.
- Comparative prognostic performance of International Federation of Gynecology and Obstetrics 2023 staging system and the 2025 European Society of Gynaecological Oncology-European Society for Radiotherapy and Oncology-European Society of Pathology risk classification in endometrial cancer.Obstetrics & gynecology science · 2026Article
- Review
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6 authors.
Funding
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Abstract
objectiveTo evaluate the diagnostic accuracy of droplet digital polymerase chain reaction (ddPCR) for detecting polymerase epsilon (POLE) mutations in endometrial cancer (EC), comparing it with traditional Sanger sequencing and next-generation sequencing (NGS).
methodsTumor DNA from 132 patients with EC was analyzed initially using both ddPCR and Sanger sequencing. Discordant cases (n=20) underwent further analysis using NGS as the reference standard. This study compared the sensitivity, specificity, and overall concordance of ddPCR against Sanger sequencing results, validated by NGS.
resultsAmong the 20 discrepant samples, ddPCR detected POLE mutations in 15 cases (75%). All ddPCR results matched exactly with NGS findings, including the detection of 11 low-frequency mutations missed by Sanger sequencing. ddPCR also corrected 2 false-positive results initially identified by Sanger sequencing. No false negatives were detected by ddPCR.
conclusionddPCR demonstrated superior sensitivity and specificity in detecting POLE mutations compared to Sanger sequencing and showed perfect agreement with NGS. With its rapid turnaround, simplicity, and cost-effectiveness, ddPCR is highly suitable for routine clinical use, potentially enhancing patient management and outcomes in EC.
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