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目的观察急性髓系白血病(AML)患者Fms样酪氨酸激酶3(FLT3)基因内部串联重复(ITD)突变、酪氨酸激酶结构域(TKD)点突变的发生情况,分析并比较双突变患者与单突变患者的临床资料。方法 AML患者432例,取新鲜骨髓分离单个核细胞,提取DNA,采用PCR法对FLT3基因第14、15外显子多发突变区及第20外显子突变区进行扩增,经琼脂糖凝胶电泳,分析ITD、TKD突变情况。收集并比较FLT3基因ITD、TKD双突变AML患者与单突变患者的性别、年龄、白细胞、血红蛋白、血小板、外周血原始细胞比例、骨髓原始细胞比例、治疗缓解情况等资料。结果 432例AML患者中共检出FLT3基因突变102例。TKD、ITD双突变11例;FLT3基因单突变91例,其中ITD突变60例,TKD突变31例。FLT3基因ITD、TKD双突变与单突变患者的性别、年龄、白细胞、血红蛋白、血小板、骨髓原始细胞比例、外周血原始细胞比例及治疗缓解情况差异均无统计学意义。结论少数AML患者可同时发生FLT3基因ITD、TKD突变,FLT3基因双突变患者与单突变患者临床特征无明显差异。
Objective To investigate the occurrence of mutations in the ITM and TKD in patients with acute myeloid leukemia (AML) and to identify and compare the mutations in the Fms-like tyrosine kinase 3 (FLT3) gene in patients with double mutations And single mutation in patients with clinical data. Methods A total of 432 patients with AML were divided into fresh bone marrow mononuclear cells (MNCs) and DNA was extracted. The mutations of exon 14 and exon 20 of FLT3 gene were amplified by PCR. The agarose gel Electrophoresis, analysis of ITD, TKD mutations. We collected and compared the gender, age, leucocyte, hemoglobin, platelet, percentage of peripheral blood blast cells, ratio of bone marrow blast cells, and treatment response between two FLT3 gene ITD and TKD double mutant AML patients. Results A total of 102 FLT3 mutations were detected in 432 AML patients. TKD, ITD double mutation in 11 cases; FLT3 gene mutation in 91 cases, of which 60 cases of ITD mutation, TKD mutation in 31 cases. There was no significant difference in sex, age, white blood cell, hemoglobin, platelet, bone marrow blast cell percentage, peripheral blood blast cell percentage and treatment response among FLT3 gene double mutation and single mutation of ITD. Conclusions A few patients with AML may have ITD and TKD mutations of FLT3 gene simultaneously. There is no significant difference in the clinical features between FLT3 gene mutation and single mutation patients.