Spatial gene expression profiling reveals the distinct microenvironment of tuberous sclerosis complex-associated angiomyolipoma.

ABSTRACT: The aim of this study was to characterize the transcriptional landscape of tuberous sclerosis complex-associated renal angiomyolipomas (TSC-AMLs) using spatial transcriptomics and to compare it with sporadic AMLs and renal cell carcinoma (RCC) to identify TSC-specific molecular features. Spatial gene expression analysis (CytAssist Visium) was performed on formalin-fixed, paraffin-embedded sections from one case each of TSC-AML, sporadic AML, and RCC. Unsupervised clustering revealed that TSC-AML and sporadic AML, unlike RCC, displayed triphasic tumor structures with vascular, smooth muscle, and adipose components expressing canonical perivascular epithelioid cell markers such as PMEL, MLANA, ACTB, and DES. TSC1 and TSC2 were downregulated, and mild upregulation of MTOR, MLST8, and RPTOR wa

SUBMITTER: Watanabe R 

PROVIDER: S-EPMC12660837 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature