Gains and losses in matched MPN samples and mutational analysis. (A) Most commonly altered genomic regions in MPN samples (left sample column) compared with matched blast phase samples (right sample column) evolved from 11 patients (2 PV, 1 ET, 8 PMF). Each line represents 1 sample with either deletion (blue), duplication/amplification (red), or CNN-LOH (green). (Bi) Hemizygous TP53 mutation detected in MPN-blast phase sample of case 120 associated with acquired 17q deletion, which was not present in the MPN phase of case 120. (ii) Hemizygous RUNX1 mutation detected in MPN-blast phase sample (case 121) associated with acquired deletion at 22q22.1, which was not present in the MPN phase of case 121. (iii) Hemizygous TET2 mutation detected in MPN-blast phase sample of case 121 associated with acquired cryptic deletion on 4q24, which was not present in the MPN phase of case 121. (iv) Homozygous c-CBL mutation detected in MPN-blast phase sample of case 132 associated with acquired 11q CNN-LOH, which was not present in the MPN phase of case 132.