Fig. 1

Whole exome- and gene fusion analysis between Dx and Re. (A) Oncoplot from WES showing 14 selected somatic mutations across 6 patients (red: n = 2 AML1-ETO; blue: n = 4 FLT3-ITD). We termed patient s232, s292, s2275 and s3432 as “FLT3-ITD”, although it is not an AML initiating lesion, nor an acknowledged WHO2016 AML category, but treatment with the FLT3 inhibitor Midostaurin is distinct from the AML1-ETO patients. Mutations with at least 5 reads on the ALT allele and VAF ≥ 0.05 are depicted as squares and the ones below this threshold are indicated as triangle. Vertical bars depict the number of mutations detected per sample; horizontal bars depict the (relative) frequency of a particular mutation. (B) Gene fusions detected from bulk RNA-seq. (C) Mutations with a VAF ≥ 0.2 at Dx or Re for which the VAF changed significantly. For all bars, p < 0.05, Fisher’s exact test with Benjamini–Hochberg correction. Red: mutations more abundant at Dx. Blue: mutations more abundant at Re