Clinicogenetic characteristics and outcomes of children with NUP98-rearranged acute myeloid leukaemia: A single-centre cohort study of 32 cases.
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NUP98 rearrangements define a high-risk, genetically heterogeneous subtype of paediatric acute myeloid leukaemia (AML), yet comprehensive clinicogenetic and survival data remain limited. This retrospective, single-centre study of 32 paediatric patients (2017-2025) found a median age of 8.7 years and predominance of the NUP98::NSD1 fusion (68.8%), frequently co-mutated with FLT3-ITD (50%) and WT1 (43.8%). Complete remission (CR) rates increased from 53.1% to 87.5% after first and second induction. With a median follow-up of 41.7 months, the estimated 3-year overall survival (OS), event-free survival (EFS) and cumulative incidence of relapse (CIR) were 81.2% (95% confidence interval [CI], 65.9%-96.5%), 62.8% (95% CI, 43.8%-81.8%) and 28.1% (95% CI, 12.9%-45.6%), respectively; corresponding rates among the 29 transplanted patients were 79.8% (95% CI, 63.5%-96.1%), 68.7% (95% CI, 50.3%-87.1%) and 26.0% (95% CI, 11.1%-43.9%) respectively. Exploratory multivariate analysis identified failure to achieve CR after induction 2 as a risk factor for OS, WT1 mutation for relapse in the entire cohort and pretransplant minimal residual disease (MRD) positivity for relapse in the transplant subgroup. This confirms that NUP98-rearranged AML necessitates intensive therapy including transplant and highlights WT1 and pretransplant MRD as key prognostic markers for risk-adapted strategies.