Therefore, the observed ELF1 downregulation may be attributed to the decreased expression of FLI1. These findings suggested that FLI1 is a critical causative gene in pathogenesis of FPDMM caused by a RUNX1 TAD mutation, which could serve as a potential drug target. This evidence concerns the gene FLI1 and hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1.