Figure 1.
Cohesin complex mutations in myeloid malignancies. The core members of the cohesin complex ring and its loader complex (A) and the frequency of mutations (B) according to diagnostic subgroup: de novo AML (n = 2170)8,15,128 ; NPM1-mutant AML (n = 418)15 ; FLT3-ITD-mutant AML (n = 341)15 ; t(8;21) AML (n = 254)15,32,49 ; inv(16) AML (n = 189)32,49,129 ; MDS (n = 1596)35,38 ; sAML (n = 93)130 ; AML-MRC (n = 106)8,18 ; CMML (n = 224)8,131 ; pediatric MDS (n = 38)39 ; pediatric AML (n = 993)129 ; and DS-AMKL (n = 190).41,42 Mutation frequency was calculated as frequency of positive reported cases within the total tested cohort in a single study or averaged across multiple available cohorts. AML-MRC, AML with myelodysplasia-related changes; CMML, chronic myelomonocytic leukemia; DS-AMKL, Down syndrome–associated acute megakaryoblastic leukemia.