Figure 5.

Clonal heterogeneity in CBF AML. Variant allele frequency (VAF) of driver mutations identified in 6 illustrative patients. t(8;21) AML patients (A-C); inv(16) AML patients (D-F). Colored circles indicate the observed allele frequency. Patients in panels A, B, D, and E show statistical evidence for clonal heterogeneity. The definite phylogenetic tree was reconstructed in panels B and E with 1 major clone and 1 subclone, whereas in panels A and D, the clonal architecture could not unambiguously be resolved. (C,F) VAF of driver mutations was similar suggesting the existence of only one major clone. (G) The proportion of patients in each cohort with evidence of several clones (heterogeneous, gray color) or only a single clone (homogeneous, blue color) is indicated.