Tubulocystic renal cell carcinoma with aggressive behavior-insights from molecular profiling and single-cell analysis: A case report

Figure 1 The diagnostic and therapeutic course of this patient. A: Clinical timeline depicting the diagnostic and therapeutic course. Arrows indicate treatment duration; vertical bars denote key clinical events; B: Enhanced computed tomography examination revealing disease progression in the patient; C: Hematoxylin and eosin staining of surgical and puncture specimens from the patient.

Figure 2 Single-cell analysis reveals the characteristics of tubulocystic renal cell carcinoma. A: UMAP plots showing 23903 cells grouped into 8 groups; B: Heatmap illustrating signature genes across distinct subpopulations; C: The bar chart comparing cell type proportions across various subtypes of renal cell carcinoma and normal renal tissue; D: Copy number variation analysis distinguishing normal cells from tumor cells within epithelial populations; E: Gene set variation analysis enrichment analysis of tumor cells showing highly elevated angiogenesis scores in tubulocystic renal cell carcinoma compared to other renal cell carcinoma subtypes. CRCC: Chromophobe renal cell carcinoma; TRCC: Tubulocystic renal cell carcinoma; CCRCC: Clear cell renal cell carcinoma; UMAP: Uniform manifold approximation and projection.

Figure 3 Single-cell analysis delineates the immune microenvironment characteristics of tubulocystic renal cell carcinoma. A: UMAP plots illustrating signature genes across distinct T/NK cell subpopulations: Naïve T cells, Effector T cells, Exhausted T cells, and NK cells; B: Bar chart comparing proportions of T/NK cell subpopulations across different histological subtypes of renal cell carcinoma; C: UMAP plots demonstrating the distribution of T/NK cell subpopulations across various types of renal cell carcinoma; D: UMAP plots illustrating signature genes across distinct macrophage subpopulations; E: Density plots depicting the distribution of signature genes across macrophage populations; F: GSVA enrichment analysis of macrophage subclusters showing elevated HALLMARK_ANGIOGENESIS scores in SPP1+ TAMs compared to other macrophage subclusters. CRCC: Chromophobe renal cell carcinoma; TRCC: Tubulocystic renal cell carcinoma; CCRCC: Clear cell renal cell carcinoma; TAM: Tumor-associated macrophage; UMAP: Uniform manifold approximation and projection; GSVA: Gene set variation analysis.