To study the impact of KIT and other concomitant gene mutations on the prognoses of patients with core-binding factor acute myeloid leukemia (CBF-AML). A total of 104 newly diagnosed patients with CBF-AML in Hebei Yanda Lu Daopei Hospital from January 2014 to February 2018 were analyzed, and high-throughput gene sequencing for the detection of mutations among 58 genes was executed. Also, the clinical features of KIT mutation-positive CBF-AML (KIT+CBF-AML) patients and the effects of other concomitant gene mutations on the prognoses of patients were also analyzed. A total of 56 cases (53.85%) with KIT mutations were found in 104 CBF-AML patients. Among this, KIT D816 mutation was the most common (32 patients), followed by the N822 mutation (17 patients). Patients with KIT+CBF-AML have a higher proportion of bone marrow blasts at the time of diagnoses and are more likely to have sex chromosome loss. Among the 52 patients with KIT+CBF-AML who were followed up, the allogeneic hematopoietic stem cell transplantation (allo-HSCT) group had a higher overall survival rate (OS) than that of the chemotherapy group (88.9% vs 57.1%, χ(2)=6.076, 0.05). The event-free survival (EFS) and OS of patients with KIT+CBF-AML with FLT3 mutation were both significantly lower than those of the FLT3 mutation-negative group (EFS: 40.0% vs 72.3%, χ(2)=6.557, 0.05; OS: 60.0% vs 87.2%, χ(2)=8.305, 0.05). The OS of the patient with TET2 mutation was lower than that of the TET2 mutation-negative group (50.0% vs 87.5%, χ(2)=4.130, 0.05). Patients with KIT+CBF-AML with concomitant gene mutations, especially FLT3 and TET2, have poor prognoses, which can be improved by allo-HSCT.
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