Figure 2. Clinico-genomic integrated vignettes for patients transformed to AML.

(a) One individual with MPN developing AML through acquisition of TP53 biallelic loss and subsequent chromosomal copy number changes. (b) Six individuals with MPN developing AML via subsequent acquisition of AML driving mutations emerging from advanced MPN clones, often harbouring up to 5 driver mutations. (c) Two patients with MPN developing AML that was JAK2-negative, showing their independent clonal origin. Disease course is depicted by the top bar coloured by clinical diagnosis. The bar just below shows treatment history coloured by treatment type and indicated as “Unknown” where this information was unavailable. Demarcations between colours demonstrate the time points of initial diagnosis or progression, black lines mark timepoints of samples sequenced with WGS, and grey lines mark timepoints of samples sequenced by TGS. Beneath these are fish-plots showing key clones and subclones with driver events labelled in order of clone appearance. Below this strip, blood counts are shown with the left y-axis for Hb (g/dL) and WBC (x10⁹/L) and the right y-axis representing platelets (x10⁹/L). Trend lines fitted using the geom_smooth(“Loess”) function of ggplot2.