Genetic defects in patients with tMNs and comparison with patients with de novo MDS. (A) Number of acquired mutations in 7 patients in whom tMNs developed after ASCT, as determined by WES and confirmed by amplicon-based deep sequencing. In red, the number of mutations in genes previously implicated in the pathogenesis of myeloid malignancies is indicated (driver mutations); in blue, the number of mutations not previously implicated in myeloid malignancies (putative passenger mutations). (B) For each patient, all mutations in genes known to be recurrently mutated in myeloid malignancies are depicted as well as all cytogenetic defects detected by karyotype analysis (red). The “2” indicates 2 different mutations affecting the same gene. (C) Significantly more mutations could be detected in patients with tMNs compared with patients with de novo MDS. (D) Distribution of the different types of alterations detected in the total set of patients with tMNs. (E) No correlation could be observed between age and the number of genetic defects (genetic and cytogenetic defects) in patients with tMNs. The Pearson correlation coefficient was determined. (F) Different types of single nucleotide changes detected in all patients. In patients with tMNs, less G:C→A:T transitions are present than in patients with de novo MDS.