Schematic representation of the clonal evolution of SCN to AML. The sequential genetic events, starting with the presence of a germline mutation in ELANE are indicated. A sequential gain of CSF3Rδ mutations and an LLGL2 mutation is observed in the early SCN phase. Only the clone harboring the CSF3R-d715 and the LLGL2 mutation gained an additional mutation in ZC3H18, followed by its expansion in the intermediate SCN phase. Gain of 9 additional mutations and trisomy 21 in the mutated population preceded complete transformation to AML. CSF3R-d715-d730 indicates CSF3Rδ mutations at amino acid positions 715-730.