Figure 1. The mutational landscape of transfusion dependent myelofibrosis.
(A) Frequency of mutations detected at baseline by targeted gene sequencing (n= 205 patients). Each column represents an individual patient. Only genes with pathogenic mutations detected in at least 5 patients are shown. Each colour corresponds to mutation type. VUS=variant of uncertain significance (see methods). (B) Kaplan-Meier curve of leukemia-free survival (LFS) stratified by HMR at 1-year; HMR did not influence 12-month LFS; HMR-mutated (73.1% [95% CI 64–80%]) versus HMR-wild type (WT) patients (76.2% [95% CI 69–82%]), P=0.21. (C) Kaplan-Meier curve of LFS stratified by TP53 at 1-year showing a poorer LFS in TP53-mutated patients (47% [95% CI 29–63%]) versus TP53-WT (76% [95% CI 70–81%]), p=0.0085. HMR (high molecular risk - ASXL1, EZH2, SRSF2, IDH1/2, U2AF1 Q157)