伴CSF3R突变急性髓细胞白血病的研究进展  

Research progress of CSF3R mutation in acute myeloid leukemia

作　　者：崔苗 李青芸 卢绪章[1] 陈梅玉 Cui Miao;Li Qingyun;Lu Xuzhang;Chen Meiyu(Department of Hematology,Affiliated Changzhou Second Hospital of Nanjing Medical University,Changzhou 213003,Jiangsu Province,China)

机构地区：[1]南京医科大学附属常州市第二人民医院血液科,常州213003

出　　处：《国际输血及血液学杂志》2022年第1期80-84,共5页International Journal of Blood Transfusion and Hematology

基　　金：常州市社会发展项目(CE20205027);常州市卫生健康委科技项目(QN202035)。

摘　　要：集落刺激因子3受体(CSF3R)在粒细胞的增殖、分化中发挥重要作用。约80%的慢性中性粒细胞白血病(CNL)患者可检出CSF3R突变,目前CSF3R突变已被作为CNL的特异性诊断分子标志物。CSF3R信号通路下游的酪氨酸激酶可作为CNL的治疗靶点。近年研究结果显示,CSF3R突变在急性髓细胞白血病(AML)患者中的发生率为1%~3%,但是在核结合因子(CBF)-AML和CEPBA双等位基因突变AML(CEBPAdm AML)中,CSF3R突变发生率分别为9%~18%和16%~30%,而目前关于其临床意义及预后价值尚未明确。笔者拟就伴CSF3R突变CBF-AML和CEBPAdmAML患者的临床特征、预后,以及针对CSF3R突变靶向治疗等方面的研究进展进行综述。Colony stimulating factor 3 receptor(CSF3R)plays an important role in the proliferation and differentiation of granulocytes.CSF3R mutations occur in approximately 80%of patients with chronic neutrophil leukemia(CNL),and serves as a specific diagnostic molecular marker for CNL.Tyrosine kinases in downstream signaling pathway of CSF3R can be used as therapeutic targets for CNL.Recent studies have shown that the incidence of CSF3R mutation in AML patients is 1%-3%,but when the study population is limited to core-binding factor acute myeloid leukemia(CBF-AML)and biallelic CEBPA mutations AML(CEBPAdm AML),the incidence of CSF3R mutations has increased to about 9%-18%and 16%-30%,respectively.But the clinical value and prognostic significance of CSF3R mutation are still unclear.This article reviews research progress of clinical characteristics and prognosis of CBF-AML and CEBPAdm AML patients with CSF3R mutation,and targeted therapy for CSF3R mutation.

关 键 词：白血病 髓系 急性 蛋白-酪氨酸激酶 突变 分子靶向治疗 集落刺激因子3受体 

分 类 号：R733.71[医药卫生—肿瘤]