The mutational landscape of R/PR AML. Recurrently altered genes/functional gene groups in all 48 adult and 25 pediatric R/PR AML cases, including evolutional patterns in patient-matched diagnosis and R/PR samples (30 adult and 22 pediatric pairs). Included are recurrent nonsynonymous SNVs and small indels, translocations involving genes commonly altered in AML, and CNAs of whole chromosomes/chromosomal arms detected by WGS and WES. The cases were categorized into risk groups (adverse, intermediate, and favorable) based on the European LeukemiaNet–risk classification²  for adult AML and the NOPHO-DBH AML 2012 Protocol (study registered at EudraCT as #2012-002934-35) for pediatric AML. A short EFS was <0.5 years for adults and <1.0 years for pediatric patients. +, copy number amplification; ¤, copy number deletion; *, CN-LOH; EFS, event-free survival; NGS, next-generation sequencing; D, diagnosis; R, relapse; LOY, loss of chromosome Y. Digits within individual boxes refer to the number of alterations within the gene or the number of altered genes within a functional group at D/R or D/PR; DS, Down syndrome; AB, ABCA12; AR, ARHGAP31; DN, DNAH3; FA, FAT3; NI, NIPBL; NR, NRXN3; RA, RAD21; SF, SF3B3; SM, SMC1A/3; SR, SRSF1/2/6; ST, STAG1/2; SY, SYNE1; U2, U2AF1; ZN, ZNF91; and ZR, ZRSR2. See supplemental Table 12D for details regarding samples included in this figure.