Figure 3.
Variant frequencies in R/PR AML. (A) Recurrent SNVs and small indels discovered in the R/PR AML cohort. Displayed are the frequencies of recurrent gene mutations at diagnosis and R/PR stages among all adult (n = 48) and pediatric (n = 25) cases. (B) Mutational frequencies of indicated functional gene groups at diagnosis and R/PR stages in adult and pediatric AML. (C) Variants lost and gained during leukemic progression. Shown are the proportions of protein coding SNVs and small indels identified in the 27 adult and 20 pediatric AML cases (total n = 47) for which patient-matched diagnostic and relapse specimens were available, according to their presence at diagnosis and/or relapse. Total variants, n = 843 (adult, n = 519; pediatric, n = 324). Detailed information regarding samples used for generating this figure is present in supplemental Table 12E-F. D, diagnosis.