Figure 1.

(A) Overview of mutations in RUNX1. Linear structure of the RUNX1 protein (NP_001745.2) includes the N-terminal RUNT domain and the C-terminal transcriptional activation domain (TAD). Amino acid (aa) changes resulting from mutations found in our cohort of CN-AML patients are detailed. The graph was generated using the software DOG 2.0.²⁵ (B) Distribution of mutations in RUNX1 and eight additional genes in 93 CN-AML patients. Additional mutations are shown for patients with RUNX1 mutations (n=15) or wild-type RUNX1 (n=78). Seventy-three CN-AML patients were enrolled in the AMLCG-99 clinical trial (left panel). Another 20 CN-AML patients were not homogenously treated (right panel). Genes analyzed for mutations are indicated on the left side.