急性髓系白血病患者中异柠檬酸脱氢酶1和异柠檬酸脱氢酶2突变的临床意义
[Clinical significance of IDH1 and IDH2 mutations in patients with acute myeloid leukemia].
作者信息
Mi Rui-hua, Lu Xiao-dong, Wei Xu-dong, Fan Rui-hua, Yin Qing-song, Hu Jie-ying, Wang Qian, Song Yong-ping
机构信息
Department of Hematology, the Affiliated Cancer Hospital of Zhengzhou University, Zhengzhou 450008, China.
出版信息
Zhonghua Xue Ye Xue Za Zhi. 2011 Sep;32(9):610-3.
OBJECTIVE
To assess the frequencies and prognostic significance of the isocitrate dehydrogenase 1 and 2 (IDH1 and IDH2) mutations in acute myeloid leukemia (AML) and to explore their relevance to clinical, cytogenetic and molecular feature.
METHODS
Genomic DNA from 96 newly diagnosed AML patients from Sep. 2009 to Jan. 2011 was screened by RT-PCR and sequencing for IDH1 and 1DH2 mutation.
RESULTS
The prevalence of IDH1 (p. P127 and p. I130) and IDH2 mutations (p. R140) was 14.6% (14/ 96) and 2.17% (2/96) respectively. The IDH1 mutations of p. P127 and p. I130 were not reported so far in literature. Of 14 IDH1 mutation patients, 10 were with normal karyotype and the differences had statistical significance (P=0.021). Two patients with IDH2 mutation were also with normal karyotype. IDH2 mutations were in older patients at diagnosis. Patients with IDH mutation had higher white blood cell counts, lower platelet counts, expression of HLA-DR, CD34, CD33 and CD13, lower remission rate and higher relapse rate.
CONCLUSION
IDH mutation is recurring genetic change in AML and indicates poor prognosis.
目的
评估急性髓系白血病（AML）中异柠檬酸脱氢酶1和2（IDH1和IDH2）突变的频率及其预后意义，并探讨其与临床、细胞遗传学和分子特征的相关性。
方法
采用逆转录聚合酶链反应（RT-PCR）和测序技术，对2009年9月至2011年1月新诊断的96例AML患者的基因组DNA进行IDH1和IDH2突变筛查。
结果
IDH1（p.P127和p.I130）和IDH2突变（p.R140）的发生率分别为14.6%（14/96）和2.17%（2/96）。p.P127和p.I130的IDH1突变在文献中尚未见报道。14例IDH1突变患者中，10例核型正常，差异有统计学意义（P=0.021）。2例IDH2突变患者核型也正常。IDH2突变多见于诊断时年龄较大的患者。IDH突变患者白细胞计数较高、血小板计数较低、HLA-DR、CD34、CD33和CD13表达较低、缓解率较低且复发率较高。
结论
IDH突变是AML中反复出现的基因改变，提示预后不良。
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