Fig. 6

Exploratory analysis on T/My and B/My MPAL samples with relapse depicted differences in transcriptome profiles in comparison to samples with remission. A UMAP of Dx B/My MPAL cells (n = 10,591) annotated based on future clinical outcomes: relapse (Dx-Rel) or remission (Dx-Rem). The normal cells were annotated based on canonical markers (Fig. 1b). The B/My MPAL cells depict some overlapping Dx-Rem and Dx-Rel single-cell profiles on the unsupervised analysis. UMAP of Dx T/My MPAL cells (n = 11,031 cells) showing unique profile for Dx-Rel and Dx-Rem blasts with no overlap. B Venn diagram showing genes that are associated with MPAL remission or relapse in B/My and T/My MPAL. These genes were identified by comparing each subtype’s Dx-Rel and Dx-Rem blast cells profile and selecting significantly differentially expressed genes based on average log2FC > 0.25, and adjusted p-value < 0.05). The analysis identified 40 and 24 genes that are commonly upregulated in relapse and remission respectively at diagnosis. C Gene sets that are significantly associated with relapse (left) and remission (right) in MPAL at diagnosis. D Gene set enrichment analysis on the Dx-Rel and Dx-Rem blast cells in each MPAL subtype. The cell differentiation expanded index gene set depicted differential enrichment (Wilcoxon ranked test p-value < 0.05) between Dx-Rel and Dx-Rem blasts in both MPAL subtypes. E Cellular communication analysis based on ligand and receptor expression was performed to identify differences between remission and relapse outcomes at diagnosis. The pathways with significantly different information flow between remission and relapse (at Dx) B/My and T/My MPAL samples have been plotted as bar graphs. The information flow represents the sum of the communication probabilities of all cell types for the particular signaling pathway, and pathway names colored in pink and green representing enrichment for the Dx-Rel and Dx-Rem outcomes. F A chord diagrams for MHC-I signaling in Dx-Rel B/My MPAL cells. The left diagram shows the signaling between different cell types, from senders to receivers. The right diagram highlights the expression of ligand-receptor pairs estimated to interact between blasts and T-cells (green color represents Dx-Rem and red color represents Dx-Rel)