Detection of KIT mutations in core binding factor acute myeloid leukemia.

We have investigated the frequency and the effect of mutations on the outcome of patients with CBF-AML. 69 patients (34 pediatrics and 35 adults) with CBF-AML were enrolled in the study. The frequency of mutations was higher in adults compared to pediatrics (22.9% and 14.7%,  = 0.38) respectively. Leukocytosis ≥ 20 × 10 /L was significantly associated with pediatrics compared to adults. t(8;21)(q22;22) was significantly associated with thrombocytopenia in adults. We conclude that no significant difference is found between mutated and unmutated CBF-AML in adults and pediatrics. Children with CBF-AML present with leukocytosis. t(8;21) is associated with thrombocytopenia.