Identification of a potential relationship between pigmented villonodular synovitis and atherosclerosis using comprehensive bioinformatics analyses

This study investigates the pathogenesis of Pigmented Villonodular Synovitis (PVNS) using bioinformatics approaches shared with atherosclerosis (AS). Common genes from GSE3698 and GSE28829 were identified. A PPI network was constructed using the STRING database and analyzed with Cytoscape, MCODE, and cytoHubba to determine hub genes. These underwent GO and KEGG enrichment analysis. Candidate genes were identified by integrating cytoHubba and machine learning, and validated via immunohistochemistry and the GSE100927 dataset. Immune infiltration in PVNS and its association with candidate genes were examined, followed by scRNA-seq analysis using GSE155527. Analysis of 43 shared genes implicated immune responses in both diseases. CSF2RB was identified as a key candidate gene through PPI, machine learning, and immunohistochemistry. Immune infiltration confirmed immune dysregulation and linked CSF2RB to multiple immune cells. scRNA-seq revealed increased macrophages, T cells, and endothelial cells in PVNS, with CSF2RB highly expressed in macrophages and mast cells. CSF2RB may serve as a diagnostic and therapeutic target for PVNS. scRNA-seq indicates disrupted immune cell composition in PVNS, characterized by significant increases in macrophages and T cells.