Figure 5.
Distribution of somatic mutations in paired diagnosis relapse samples. (A) Bar graph showing the total number of SNVs per patient. For each patient, the number of mutations in diagnosis and relapse is depicted as shared, unique to diagnosis, or unique to relapse. (B) Ratio of stable/unstable (gained or lost) mutations. Patients with ≥60% gained/lost mutations were considered group B. (C) VAF plots of 2 exemplary patients from each group (group A: AML27; group B: AML38) showing the different evolutionary patterns observed from diagnosis to relapse. Known AML driver genes are highlighted. VAFs were corrected for frequent chromosomal aberrations and sex bias. The VAF plots of the remaining 17 patients can be found in supplemental Figures 10 and 11.