An overview of the mutations identified in the 2 MS patients. (A) In case 1 a small preleukemic clone was identified in the morphologically normal BM at MS diagnosis (shown in dark and light blue). In the MS, further mutations were gained (shown in gray and orange), and later in the developing AML, additional mutations had accumulated (shown in green), whereas some mutations were lost (shown in gray and light blue). (B) In case 2, the preleukemic clone comprised the majority of the BM cells at MS diagnosis (shown in dark blue). The accumulating mutations were identical in the MS and the subsequently developing AML (shown in orange), apart from 1 additional mutation (shown in green). (C) A schematic illustration of NF2E depicting mutations identified in the 4 patients with isolated MS. All variants were primarily identified as mutations (VAF above 10%) in the MS and in the developed AML and subsequently investigated in all corresponding samples. All variants less than 5% are regarded as uncertain because of the low number of reads supporting the variant allele. BM, bone marrow; PB, peripheral blood; VAF, variant allele frequency. *Two mutations were present in DNMT3A in case 2.