Granulocyte colony-stimulating factor (G-CSF) dose and absolute neutrophil count (ANC) response in patients with SCN, by ELA2 mutation status. Average ANC on therapy during the 6–18 month follow-up period on G-CSF, for patients with wild-type (blue) and mutant (black) ELA2, according to G-CSF dose (μg/kg/d) at 6 months. Dose was analysed on the log₂ scale and ANC on the log₁₀ scale. Solid lines show mean values from a generalized linear model that allows for a different linear relationship in patients with mutant versus wild-type ELA2. Shaded areas correspond to 95% point-wise confidence limits. Reference line at 1·5 × 10⁹ cells/l shows the therapeutic target ANC. Median G-CSF dose was 5·2 μg/kg/d in patients with wild-type ELA2 and 9·9 μg/kg/d in patients with mutant ELA2.

Cumulative incidence of MDS/AML in patients with SCN, by ELA2 mutation status. Cumulative incidence, by years on G-CSF therapy, and 95% confidence intervals at selected years (error bars), in patients with mutant (black) and wild-type (blue) ELA2. The Kaplan–Meier actuarial method was used to estimate the cumulative incidence curves.