Abstract: Objective　To explore the relationship between C-KIT gene mutation and clinical characteristics and prognosis of pediatric core binding factor acute myeloid leukemia (CBF-AML). Method　The C-KIT gene mutation, clinical and laboratory characteristics and prognosis of CBF-AML in children were retrospectively analyzed. Results　Among 86 children with CBF-AML, 35 (40.7%) were positive for C-KIT gene mutation. The detection rate of exon 8 mutation in C-KIT gene was significantly higher in children with inv(16)/CBFβ-MYH11 than children with t(8;21)/RUNX1-RUNX1T1, and the difference was statistically significant (P<0.01). Between the C-KIT gene mutation positive and negative groups, there are no statistically significant differences in gender, age, initial white blood cell count, proportion of immature bone marrow cells at first diagnosis, other concomitant genes, extramedullary leukemia, and complete remission rate in the first course of treatment (P>0.05). The 5-year event-free survival rate was 82.8% and 76.4% respectively in the positive and negative groups of C-KIT gene mutation, and the overall survival rate was 89.3% and 85.9% respectively. The differences were not statistically significant between the two groups (P>0.05). Conclusion　The incidence of C-KIT gene mutation is higher in children with CBF-AML and it has no significant effect on the prognosis.

Key words: nuclear factor;　acute myeloid leukemia;　C-KIT gene;　prognosis;　child