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ASXL1 mutations are recurrent in acute myeloid leukemia (AML), but it is unclear whether ASXL1 genotype might influence patient management. We analyzed frequency and impact in younger (15-59 years) and older (≥ 60 years) patients with primary or secondary disease. Overall, 9% had truncating mutations. Incidence was significantly lower in younger patients with primary than with secondary disease (4%, 12%; p = 0.03). In older patients it did not differ significantly (11%, 15%; p = 0.5). In univariate analysis, ASXL1-mutated patients had a worse outcome (5-year relapse 83% vs. 56%, p = 0.01; overall survival [OS] 6% vs. 22%, p = 0.02). However in multivariate analysis, ASXL1 mutations had no prognostic significance (for OS, p = 0.3), because age was a major confounding factor. The low incidence of mutations in younger patients with primary disease and the lack of significance in multivariate analysis indicate that there is a limited role for screening at diagnosis for ASXL1 mutations for the purpose of prognostic stratification.

Original publication




Journal article


Leuk Lymphoma

Publication Date





1326 - 1331


ASXL1, Acute myeloid leukemia, mutation, prognostic significance, Adolescent, Adult, Age Factors, Aged, Aged, 80 and over, Biomarkers, DNA Mutational Analysis, Female, Genotype, Humans, Incidence, Leukemia, Myeloid, Acute, Male, Middle Aged, Mutation, Patient Outcome Assessment, Prognosis, Repressor Proteins, Treatment Outcome, Young Adult