目的 研究血液肿瘤患者IDH1/IDH2基因突变发生率和其血液病的分布特点.方法 选取300例不同病情的血液患者骨髓的样品,其中245例是血液肿瘤患者,55例是非血液肿瘤患者,对比检查IDH2和IDH1基因是否在血液肿瘤患者中有突变行为.结果 实验共发现了7个错义的突变基因,其中2个为IDH2基因突变,4个为IDH1基因突变;还有2个IDH1同义突变.4个IDH1的突变类型是:199M、R132C、R131D及R132H,前3个突变患者都出现在3例急性髓系的白血病患者中,最后1例出现在急性淋巴细胞的白血病患者中.2个IDH2的错义突变类型是:P167R和R172K,这2例也都出现在急性髓系的白血病患者中.在发生IDH1错义基因突变的4例患者中,其体内白细胞的计数明显升高,且患者年龄均大于60岁.在发生IDH2基因突变的2例患者中,其体内白细胞的计数明显降低,且患者的年龄均小于60岁.结论 96例的急性白血病患者的检测中,共发现了9例突变患者,其IDH的突变率是9.3％,且7例发生于急性髓系的白血病患者中,说明急性髓系的白血病的发病和IDH的突变有紧密的联系.%Objective To study the incidence of IDH1/IDH2 gene mutations and the distribution of blood diseases in hematological malignancies.Methods A total of 300 patients with hematologic malignancies were selected.245 patients were hematologic malignancies and 55 non-hematologic malignancies.The IDH2 and IDH1 genes were compared between the 2 groups whether there was mutational behavior in patients with hematologic malignancies.Results 7 missense mutations were identified,of which 3 were IDH2,4 were IDH1,and 2 were IDH1.4 mutation types of IDH1 were 199M,R132C,R131D and R132H.The first 3 mutations were found in 3 patients with acute myeloid leukemia and the last one in patients with acute lymphoblastic leukemia.The 2 missense mutations of IDH2 were P167R and R172K,both of which were also found in patients with acute myeloid leukemia.In 4 patients with IDH1 missense mutations,the number of leukocytes in the patients was significantly higher and the patients were older than 60 years.In 2 patients with IDH2 gene mutation,the count of leukocytes in the gas was significantly reduced and the patients were younger than 60 years.Conclusion In 96 patients with acute leukemia,9 cases of mutant patients are found,the mutation rate of IDH is 9.3％,and occurred in patients with acute myeloid leukemia,the incidence of acute myeloid leukemia and IDH mutations are closely linked.
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