POLE V411L

Mutations in POLE might affect DNA polymerase epsilon function. These mutations also affect interactions with other proteins like proteins involved in different DNA repairing mechanisms. POLE mutations may lead to platinum resistance, but they can also trigger an immune response that improves prognosis.

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

Together with other often requested predictive biomarkers, fastGEN kits can be easily implemented in laboratories with Illumina sequencers. A user-friendly and robust bioinformatics pipeline is based on Genovesa fastGEN platform.

pPOLE were seen in both TB and LB across cancer types. The high rate of passenger mutations underscores the utility of this POLE-specific variant classification model. Because TMB can be underestimated when tumor purity is near the limit of detection for the assay, accurate detection and classification of pPOLE is critical for identifying patients who may benefit from immunotherapy.

Since P286R is a hotspot mutation in endometrioid carcinomas, patients with this variant may not respond to cladribine. Population-based pharmacogenomics studies will be required to validate our results.

Patients with advanced-stage POLE-mutated EC may show robust response to NACT. While some tumors may not require chemotherapy, further study is necessary to stratify POLE-mutated ECs and explore the role of chemotherapy in high-risk patients.

Patients with advanced-stage POLE-mutated EC may show robust response to NACT. While some tumors may not require chemotherapy, further study is necessary to stratify POLE-mutated ECs and explore the role of chemotherapy in high-risk patients.

Hotspot POLE mutations can be detected using the ddPCR assay. We suggest simultaneously evaluating POLE mutation status using ddPCR and p53/mismatch repair protein expressions using immunohistochemistry, which can rapidly and accurately determine the molecular subtype of EC.