An Epigenetically Remodeled EMT–Inflammatory Clone Associated with Spatial Immune Exclusion in Clear Cell Renal Cell Carcinoma
Rifang Lan, Lixia Weng, Bingbing Cao, Aotuo Li, Jingyi Zhang, Hongbo Shi, Lei Yang, Yingli LvClear cell renal cell carcinoma (ccRCC) exhibits intra-tumoral heterogeneity and spatial complexity that restrict immune infiltration, yet the malignant populations driving spatial immune exclusion remain elusive. We integrated scRNA-seq, paired scATAC-seq, spatial transcriptomics, and multiple bulk cohorts to identify the malignant subpopulation driving ccRCC progression. Multi-omics analyses, including malignancy inference, epigenomic profiling, cell–cell communication, and spatial modeling, characterized its molecular features and clinical relevance. We identified a malignant subpopulation co-activating epithelial–mesenchymal transition (EMT) and inflammatory programs, termed the aggressive EMT–inflammatory clone (AEIC). AEIC exhibited pronounced genomic instability, enhanced stemness, and poor prognosis across multicenter cohorts (p < 0.001). Chromatin accessibility revealed a MAZ/RUNX1-centered network driving key AEIC signature genes such as TGFBI and COL6A2. Cell–cell communication analysis suggested AEIC interacts with NK_CD16− cells via the COL6A2–(ITGA1+ITGB1) axis. Spatial analyses showed AEIC-enriched regions forming an extracellular matrix-rich barrier associated with NK_CD16− cell exclusion, M2-like macrophage polarization, and increased genomic instability. Finally, an AEIC-derived 16-gene signature stratified prognosis across independent cohorts and was associated with distinct drug-sensitivity patterns, including increased predicted sensitivity to Bortezomib and AZD4547. Overall, AEIC is associated with spatial and epigenetic remodeling in ccRCC, and the AEIC-derived signature supports prognostic stratification and further exploration of potential therapeutic vulnerabilities associated with the AEIC phenotype.