Enhanced Risk Stratification in Early-Stage Endometrial Cancer: Integrating through Droplet Digital PCR and L1CAM.

Aim: In order to enhance risk stratification in early-stage endometrial cancer (EC), we conducted molecular classification using surrogate markers, including the droplet digital polymerase chain reaction (ddPCR) and L1CAM immunohistochemistry (IHC).

Method: We analyzed archival tumor tissue from 183 early-stage EC patients. pathogenic mutations of P286R, V411L, S297F, A456P, and S459F within exons 9, 13, and 14 were detected using a ddPCR, while the mismatch repair (MMR) status was determined by MMR protein IHC and MSI tests. Additionally, we conducted IHC for p53 and L1CAM.

Results: The 183 ECs were categorized into four subgroups: -mutated (15.9%), MMR-deficient (29.0%), p53-abnormal (8.7%), and non-specific molecular profile (NSMP, 46.4%). We further subcategorized the NSMP subgroup into NSMP-L1CAMneg (41.5%) and NSMP-L1CAMpos (4.9%), which we refer to as the molecular L1CAM classification. The molecular L1CAM classification was an independent prognostic factor for recurrence-free survival (RFS) and overall survival (OS) ( < 0.001, each).

Conclusion: Integrating molecular L1CAM classification can enhance risk stratification in early-stage EC, providing valuable prognostic information to guide treatment decisions and improve patient outcomes. ddPCR might be a cost-effective and easy-to-perform test as an alternative to NGS.