粒细胞集落刺激因子受体突变和髓系肿瘤发生  

Colony Stimulating Factor 3 Mutations and Myeloid Malignancies

作　　者：邢艺[1] 赵明峰[1] 

机构地区：[1]天津医科大学一中心临床学院天津市第一中心医院血液科,天津300192

出　　处：《中国医学科学院学报》2016年第1期103-107,共5页Acta Academiae Medicinae Sinicae

基　　金：国家自然科学基金(81041043);天津市自然科学基金(BJCYBJC23400);天津市卫生行业重点攻关项目(13KG106)~~

摘　　要：粒细胞集落刺激因子(G-CSF)主要作用于中性粒细胞系造血细胞的增殖、分化和活化,其功能发挥有赖于与效应细胞表面同型二聚体受体——粒细胞集落刺激因子3受体(CSF3R)的结合。近年研究发现,CSF3R突变对疾病的发生可发挥重要作用,部分血液系统疾病,尤其是髓系肿瘤,如慢性中性粒细胞白血病等存在各种CSF3R突变,导致G-CSF转导通路发生异常,而抑制其下游通路的激酶可作为治疗上述疾病的潜在靶点。本文总结了各种CSF3R突变、作用机制及其对髓系肿瘤发生的贡献,旨在进一步探讨髓系疾病的发生机制,为其分子诊断和临床治疗提供新的方法,并为研发新型分子靶向药物提供思路。Granulocyte colony stimulating factor（ G-CSF） plays a major role in the proliferation,differentiation,and activation of neutrophil cell line hematopoietic cells. G-CSF exert the function depending on its binding to colony-stimulating factor 3 receptor（ CSF3R）,a homo-dimer receptor located on the surface of effector cells. Some recent studies have demonstrated that CSF3 R mutations play a significant role in many diseases.Some of the hematopoietic diseases,especially myeloid malignancies（ e. g. chronic neutrophilic leukemia） are related to the presence of various CSF3 R mutations,which leads to abnormal G-CSF signal pathways. Also,the downstream kinases can be the treatment targets for these diseases. This review summarizes CSF3 R mutations,mechanisms of mutations,and their contributions to the myeloid malignancies,with an attempt to further reveal the pathogenesis of myeloid malignancies,inform the diagnosis and clinical treatment of the myeloid malignancies,and provide clues for the research and development of new molecular target drugs.

关 键 词：粒细胞集落刺激因子受体 突变 髓系肿瘤 发病机制 

分 类 号：R551.3[医药卫生—血液循环系统疾病]