AKT1 and Bartsocas-Papas syndrome 1: Gene Set Enrichment Analysis (GSEA) using Hallmark gene sets showed enrichment trends toward mTORC1 signaling, MYC targets, glycolysis, estrogen response, fatty acid metabolism, and PI3K-AKT-mTOR signaling in treated IC/BPS patients, though these did not reach statistical significance after multiple testing correction (Figure 4A).