核心结合因子相关性急性髓系白血病的临床特征、基因突变情况及治疗研究进展

核心结合因子相关性急性髓系白血病（core binding factor-acute myeloid leukemia，CBF-AML）是一组异质性疾病，其预后相比正常及其他异常核型白血病好，但仍有一部分患者易复发。研究发现此类白血病存在附加细胞遗传学异常对预后有提示作用，且CBF-AML患者常伴有一个甚至多个基因同时发生突变，其中酪氨酸激酶传导通路、表观遗传修饰基因和肿瘤抑制相关基因的突变发生率较高。这些基因突变会影响患者的预后，早期发现并做出相应的诊断及分层对CBF-AML患者的治疗有指导意义，针对这些基因的靶向治疗或与化疗联合治疗可改善CBF-AML患者的预后。

Clinical characteristics,gene mutation and treatment of core binding factor-acute myeloid leukemia

Core binding factor-acute myeloid leukemia(CBF-AML) is a group of heterogeneous diseases.The prognosis of CBF-AML is better than that of normal and other abnormal karyotype leukemia，but some patients are prone to relapse.Studies have found that the presence of additional cytogenetic abnormalities in this type of leukemia is suggestive of prognosis，and patients with CBF-AML are often accompanied by simultaneous mutations in one or more genes，among which the incidence of mutations in tyrosine kinase pathway，epigenetic modification genes and tumor suppression related genes is higher.These gene mutations will affect the prognosis of patients.Early detection，corresponding diagnosis and stratification have guiding significance for the treatment of patients with CBF-AML.Targeted therapy for these genes or combined therapy with chemotherapy can improve the prognosis of patients with CBF-AML.