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C-KIT是酪氨酸激酶受体蛋白家族的重要成员之一,其作为干细胞因子的受体,可以通过一系列信号通路参与造血干细胞增殖分化的调控。近年来研究发现,c-kit基因存在突变,特别是激活性突变与急性白血病中的发病、治疗和预后等密切相关。本文就c-kit基因结构和功能,在白血病中热点突变方式,以及其突变的检测方法做一综述。
C-KIT is an important member of the tyrosine kinase receptor protein family. As a receptor of stem cell factor, C-KIT can participate in the regulation of proliferation and differentiation of hematopoietic stem cells through a series of signaling pathways. In recent years, studies have found that mutations in c-kit genes, in particular, activation mutations are closely related to the pathogenesis, treatment and prognosis of acute leukemia. This article reviews the structure and function of c-kit genes, the hot-spot mutation patterns in leukemias, and the detection of their mutations.