Figure 1.

Vitamin D receptor-related gene signatures are enriched in transcriptomes of IDH mutant AML cells. (A) Gene signature of pharmacological substances were compared with gene signatures associated with IDH1^MUT HL60 cells, IDH1^WT HL60 cells+2HG and IDH^MUT patient cells from TCGA and GSE14468 transcriptomes using Genomatix software. VENN diagram represents common pharmacological substances associated with these four gene signatures. (B) VENN diagram of common genes from ATRA- and VD-responsive genes (Pharmacological substances, Genomatix) enriched in IDH^MUT-AML and HL60 IDH1^WT+2HG. (C) Gene set enrichment analysis (GSEA) of late VD/VDR activation pathway signature in HL60 IDH1^R132H, HL60 IDH1^WT treated with 2HG and in IDH^MUT patients from GSE14468. (D) Correlation between late VD/VDR activation pathway gene signature and up-regulated genes in IDH1^MUT signatures (left, GSE14468; right, TCGA) in scRNA-seq of AML cells from the PDX IDH1^R132H. (E) GSEA of late VD/VDR activation pathway gene signature in IDH^MUT patients relapsing after IDH inhibitor treatment compared to those patients before treatment (GSE153349).