Performance of Liquid Biopsy‐Based Multi‐Omics Biomarkers for Early Detection of Gynecological Malignancies: A Prospective Study (PERCEIVE‐I)

Abstract

Liquid biopsy is a promising approach for early detection of gynecological malignancies. In the PERCEIVE‐I study, gynecological Cancer cases ( n  = 249) and age‐matched non‐cancer controls ( n  = 249) are randomly divided into training and test sets at a 1:1 ratio. Data derived from multi‐omics assays are obtained including a cell‐free DNA methylation panel targeting ≈490 000 CpG sites, a mutation panel comprising 168 genes, and eight tumor protein markers. The results showed that the methylation model outperformed the protein and mutation models, demonstrating higher sensitivity (77.2%) while maintaining similar specificity. The multi‐omics model combining methylation and protein markers achieved improved sensitivity (81.9%) with a good specificity (96.9%). The sensitivity varied across different stages, ranging from 66.7% to 100%. The model accurately identified the tissue of origin in 72.1% of cases. The superior performance of the methylation model highlights the potential of integrating multi‐omics for non‐invasive early detection of gynecological malignancies.