Figure 1.

Frequencies of RASopathy gene mutations in the 3 patient cohorts: patients without evidence of progression (cohort A), patients who developed disease progression (transformation and/or disease-related death) during follow up (cohort B), and patients who had already transformed to secondary acute myeloid leukemia (AML) at the time of sampling (cohort C). Individual genes are indicated by different colors. Cohort C includes 18 patients from cohort B who initially had no evidence of transformation but developed AML during observation. In patients with more than one mutation in RASopathy genes the mutation with the highest variant allele frequency (VAF) was used for this analysis.