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

Indeed, GSEA analysis of 1 mutant RUNX1 CD34 + LBC against 3 wild type RUNX1 CD34 + LBCs showed the Awad and shortlisted RUNX1 gene sets were significantly enriched (FDR < 0.25) in the mutant RUNX1 CD34 + LBC sample (except for MORF_RUNX1 which enriched in the correct direction but did not achieve significance [Fig. 2A and Supplementary Table 4 ]).

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Next, to understand the potential biological significance of mutant RUNX1 -regulated lymphoid genes that were aberrantly expressed in mutant RUNX1 MBC samples, we performed pathway analysis on 22 mutant RUNX1 lymphoid targets identified from our analysis and found that interferon gamma signalling was highly significant (Fig. 2D ).

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