Profiling the Microenvironment in Tuberous Sclerosis Complex-Associated Angiomyolipoma: Insights from Spatial Gene Expression Analysis

Tuberous sclerosis complex (TSC) is a multisystem genetic disorder caused by mutations in TSC1 or TSC2, leading to constitutive activation of the mTORC1 pathway. Among its manifestations, renal angiomyolipomas (AMLs) are a common and distinctive tumor type. However, the molecular differences between TSC-associated AMLs (TSC-AMLs) and sporadic AMLs remain poorly understood. To address this, we performed spatial transcriptomic profiling (CytAssist Visium) on FFPE tissue sections from one case each of TSC-AML, sporadic AML, and renal cell carcinoma (RCC). This approach enabled in situ analysis of gene expression while preserving tissue architecture and cellular context. Our findings provide insight into the unique molecular landscape of TSC-associated tumors and offer a valuable resource for identifying disease-specific biomarkers and therapeutic targets. Overall design: Formalin-fixed, paraffin-embedded (FFPE) tissue samples from one TSC-associated AML, one sporadic AML, and one RCC case were analyzed using the CytAssist Visium spatial transcriptomics platform. Comparative analysis aimed to identify transcriptional differences among the three tumor types while preserving spatial context.