We examined the incidence of RUNX1 mutations in patients with acute myeloid leukemia (AML) and monosomy 7 or other aberrations of chromosome 7. Diagnostic samples from 116 patients (age 21 to 87 years) were analysed for RUNX1 mutations. Thirteen RUNX1 mutations were identified in twelve (10.3 %) of 116 cases, predominantly in the N-terminal region (69.2 %) in exons 3 (n = 3), 4 (n= 5) and 5 (n =1). All of the mutations were heterozygote. RUNX1 mutations were detected more frequently in patients

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... with monosomy 7 (17 %) than in patients with other chromosome 7 aberrations (6 %). The percentage of RUNX1 mutations was higher in patients with secondary or therapy related AML (16.7 %) than in patients with de novo AML (12.3 %). RUNX1 mutations were found more often in patients with solitary chromosome 7 aberration (28.6 %) than in the context with a complex karyotype (9.5 %). The median age in the RUNX1 mutated cohort (48.67 years) was lower compared with the RUNX1 wild-type cohort (56,23 years). Median WBC and platelet count was higher and the median haemoglobin and LDH count lower in the RUNX1-mutated compared with the RUNX1 wild-type cases. We couldn't find any NPM1 mutation in the entire cohort and no obvious association between RUNX1 mutations and FLT3 mutations.