Fig. 5: The KMT2A::MLLT3+ CSF1R+ LMPP transcriptome is AML-biased.

A Heatmap showing a list of the most overrepresented KMT2A complex genes in KMT2A::MLLT3+ CSF1R+ versus KMT2A::MLLT3+ CSF1R- LMPPs. B Heatmap of the most overrepresented histone-binding genes in KMT2A::MLLT3+ CSF1R+ LMPPs versus KMT2A::MLLT3+ CSF1R- LMPPs. C Gene set enrichment analysis of the DEGs in KMT2A::MLLT3+ CSF1R+ LMPPs showing as most enriched term acute myelomonocytic leukaemia (p = 0.0006); data obtained from Rare Diseases GeneRIF Gene Lists. Gene lists for the heatmaps were obtained from DAVID, Gene Ontology terms were obtained from RStudio, and Gene Set Enrichment analysis from EnrichR. D Bar graph showing Log2 fold change of OxPhos-related genes (Slc25a1, Cdk1, Timm13, Timm21, Mrpl12, Mrps12, Mki67) and leukaemia stem cell (LSC) genes (Hpox, Gata2, Erg, Mllt3) in KMT2A::MLLT3+ CSF1R+ LMPPs. Genes were selected from Zhang et al. paediatric AML sc-RNA sequencing dataset [45]. E List of upregulated genes in KMT2A::MLLT3+ CSF1R- LMPPs related to KMT2A complex and histone-binding, and pathways in cancer annotations. Data are shown as gene name with log2FC and padj. values. F Gene set enrichment analysis of the upregulated genes in KMT2A::MLLT3+ CSF1R- LMPPs indicating acute lymphoblastic leukaemia as most enriched term (p = 0.0001). Data obtained from Rare Diseases GeneRIF Gene Lists, and Gene Set Enrichment analysis from EnrichR.