IDH2 突变在中国急性髓系白血病患者中较为常见，与 NPM1 突变和 FAB-M2 亚型相关。
IDH2 mutations are frequent in Chinese patients with acute myeloid leukemia and associated with NPM1 mutations and FAB-M2 subtype.
机构信息
Department of Hematology, Affiliated Changzhou Second Hospital of NanJing Medical University, Changzhou, China.
出版信息
Int J Lab Hematol. 2012 Oct;34(5):502-9. doi: 10.1111/j.1751-553X.2012.01422.x. Epub 2012 Apr 11.
INTRODUCTION
Gene mutations play an important role in acute myeloid leukemia (AML) pathogenesis. Several genes have been identified in AML, such as FLT3, KIT, NPM1, and JAK2. This study investigated the frequency of novel mutations in IDH1 (amino acid R132) and IDH2 (R140 and R172) and analyzed their impact on disease biology and interaction with other mutations in Chinese patients with de novo AML.
METHODS
A total of 195 patients were screened for mutations in the IDH1, IDH2, JAK2 V617F, NPM1, FLT3, and KIT genes, using polymerase chain reaction (PCR)-based and direct sequencing assays.
RESULTS
IDH mutations occurred at a considerable frequency of 15.89% in Chinese AML cases; IDH2 R140Q was the most frequent genetic alteration and was associated with older age, normal karyotype, and French-American-British classification M2 at diagnosis. There was a strong association of IDH2 mutation with NPM1 mutations and a trend with FLT3-internal-tandem duplication.
CONCLUSION
IDH mutations may be a novel genetic marker in cytogenetically normal AML and may cooperate in leukemogenesis.
简介
基因突变在急性髓系白血病（AML）发病机制中起着重要作用。在 AML 中已经鉴定出了几个基因，例如 FLT3、KIT、NPM1 和 JAK2。本研究调查了 IDH1（氨基酸 R132）和 IDH2（R140 和 R172）的新突变的频率，并分析了它们对疾病生物学的影响以及与中国初诊 AML 患者中其他突变的相互作用。
方法
采用聚合酶链反应（PCR）-基于和直接测序检测，共筛选了 195 例 IDH1、IDH2、JAK2 V617F、NPM1、FLT3 和 KIT 基因突变的患者。
结果
IDH 突变在中国 AML 病例中发生率相当高，为 15.89%；IDH2 R140Q 是最常见的遗传改变，与年龄较大、核型正常和诊断时的 French-American-British 分类 M2 有关。IDH2 突变与 NPM1 突变密切相关，与 FLT3 内部串联重复有一定趋势。
结论
IDH 突变可能是核型正常 AML 的一种新的遗传标志物，并可能在白血病发生中起协同作用。
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