Fig. 1.

Mutation frequencies and clonal evolution. a Mutational spectrum and mutation frequencies shown separately for the first and the follow-up biopsy with maximum progression of disease. b Mean number of mutations per diagnostic group. c Distribution of the number of mutations per case for the different diagnostic groups. d Changes in diagnostic classification over time due to disease evolution from the initial biopsy to the follow-up biopsy with maximum progression of disease. In brighter colors are the cases with SF3B1 mutation and in darker the cases with TP53 mutation. e, f Variant allele frequency course of two exemplary genes from the first biopsy to the follow-up biopsy with maximum progression of disease. Blue: MDS cases, red: MDS-IB/EB cases