NFE2 somatic mutations in FPDMM and hematologic malignancies. (A) Lollipop plot of NFE2 somatic mutations in NIH FPDMM cohort. Based on ACMG criteria, both nonsense mutations are LP (p.Leu57ArgfsTer27: PVS1 and PM2; p.Gln324Ter: PVS1 and PM2). The missense mutation, p.Asn276His, is considered as a VUS (PP3, PM2, and BP1) based on the PhyloP100way score but pathogenic according to in silico prediction (P/LP: 21/27; uncertain: 6/27). (B) Somatic alteration frequency of NFE2 gene in AACR GENIE data set and cBioportal myeloid neoplasm data set. (C) ChIP-seq data on RUNX1 binding in NFE2 locus in CD34⁺ cells from 4 publicly available data sets.^37-39 Binding profile data were downloaded from CODEX database.⁴⁰ AACR GENIE, American Association for Cancer Research Genomics Evidence Neoplasia Information Exchange; HSPCs, hematopoietic stem and progenitor cells; UCB, umbilical cord blood.