Fig. 2: Analysis of Awad and other RUNX1 mutant signatures in CML LBC and in AML. | Leukemia

Fig. 2: Analysis of Awad and other RUNX1 mutant signatures in CML LBC and in AML.

From: Validation and refinement of a RUNX1 mutation-associated gene expression signature in blast crisis chronic myeloid leukemia

Fig. 2

A Table shows GSEA analysis of 1 mutant RUNX1 CD34 + LBC sample against three wild type RUNX1 CD34 + LBC samples for the RUNX1 gene sets indicated. NES scores are denoted in red for upregulation and blue for downregulation. B GSEA heatmap shows expression of the upregulated Awad signature gene set in the left panel and TONKS_TARGETS_OF_RUNX1_RUNX1T1_FUSION_HSC_DN gene set in the right panel. 21 RUNX1 mutant (Mut) TCGA AML patient samples were compared against 130 wild type cases in red for upregulation and blue for downregulation. C GSEA heatmaps show the same gene sets with enrichments in 7 RUNX1-RUNX1T1 TCGA AML patients compared to 14 other patients with RUNX1 mutations predominantly in the Runt domain. D Bar chart shows pathway analysis of mutant RUNX1-regulated lymphoid genes aberrantly expressed in predominantly mutant RUNX1 MBC patient samples. Conserved leading edge RUNX1 mutant target genes were identified from the Awad cohort and predominantly MBC CML patients in this study (Fig. 1B). 22 RUNX1 mutation-regulated lymphoid genes were then shortlisted by overlapping with the leading edge of the wild type RUNX1 LBC versus wild type RUNX1 MBC comparison (Fig. 1C) and subjected to Enrichr [12] analysis. The top 10 most significant GO terms are inversely ranked by relative p-values.

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