Pilot study demonstrates enhanced diagnostic performance for epithelial ovarian cancer using a novel liquid biopsy method.
Key Points
The study aims to validate a duplex MethyLight assay for detecting hypermethylated tumour suppressor genes in serum cfDNA for ovarian cancer diagnosis.
Identified RUNX3 and ZNF154 gene regions as hypermethylated in epithelial ovarian cancer.
Developed a duplex MethyLight assay to detect these genes in serum and tissue samples.
Conducted targeted next-generation sequencing to confirm hypermethylation.
Evaluated diagnostic performance using ROC curves for sensitivity and specificity.
In tissue samples, ZNF154 showed 89% sensitivity and 90% specificity, while RUNX3 had 87% sensitivity and 83% specificity.
For serum cfDNA, ZNF154 had 90% sensitivity and 92% specificity; RUNX3 had 84% sensitivity and 90% specificity.
The duplex panel achieved 92% sensitivity and 94% specificity for early-stage ovarian cancer with an AUC of 0.95.