Fig. 4

Single-cell analysis identified the biological features of double-hit (DH) myeloma cells with the propensity to progress to extramedullary disease. A Gene expression dot plot of major marker genes for individual cell types. B UMAP plot displaying single cells colored by major cell types. C UMAP plot showing single cells colored by plasma cell (PC) score based on the expression of the plasma cell markers (SDC1/CD138, TNFRSF17 and SLAMF7). D UMAP plots demonstrating re-clustering of plasma cell (PC) colored by subclusters (left) and patients (right). The pie chart inset shows the nPCs fraction colored according to patient. E Pearson correlation matrix illustrating averaged gene expression levels per patient, with cytogenetic information on top and averaged expression of five MM driver genes at the bottom. F GSEA results displaying significant positive enrichment of biological processes and signaling pathways in DH myeloma cells. G Comparisons of selected gene expression related to apoptosis/drug resistance, metastasis, and clinically important targets between normal plasma cells and DH myeloma cells