Figure 2. Relationship between DNMT3A Mutations and Other Common Mutations in 188 Patients with Acute Myeloid Leukemia (AML).

Shown is the mutation status of each of 188 patients with AML on the basis of sequencing results shown in Figure 1. Red indicates the presence of the specified mutation in the designated patient, and green the absence of the mutation. For DNMT3A mutations, the presence of any R882 variant is shown in tan, and all other DNMT3A mutations are shown in blue. DNMT3A, NPM1, and IDH1/2 mutations were not detected in any sample with t(15;17), t(8;21), complex t(8;21), or inv(16). In samples with DNMT3A mutations, mutations in FLT3 (either internal tandem duplications or mutations at amino acid position D835), NPM1, and IDH1 were significantly enriched. Cytogenetic risk groups are shown at the bottom of the graph, with yellow indicating favorable risk, orange intermediate risk, and purple adverse risk. Black boxes indicate that no data were available for that sample. Mutation groups as defined by these data are designated at the top of the graph. Samples in mutation group A have cytogenetic findings associated with favorable risk and have only FLT3 mutations among the five commonly mutated AML genes. Samples in mutation group B are highly enriched for mutations in the five commonly mutated AML genes that are associated with intermediate risk. Samples in mutation group C have no mutations in any of the five common AML genes, suggesting that a different set of mutations may contribute to the pathogenesis in this group.