Mutation of isocitrate dehydrogenase 2 (IDH2) gene in Chinese AML patients and its clinical significance.
10.7534/j.issn.1009-2137.2013.03.014
- Author:
Zhen SHANG
1
;
Di WANG
;
Ming XIAO
;
Jue WANG
;
Tong-Juan LI
;
Yue-Chao ZHAO
;
Chun-Rui LI
;
Jian-Feng ZHOU
Author Information
1. Department of Hematology, Huazhong University of Science and Technology, Hubei Province, China.
- Publication Type:Journal Article
- MeSH:
Adolescent;
Adult;
Aged;
Asian Continental Ancestry Group;
genetics;
DNA (Cytosine-5-)-Methyltransferases;
genetics;
Female;
Genotype;
Humans;
Isocitrate Dehydrogenase;
genetics;
Karyotyping;
Leukemia, Myeloid, Acute;
epidemiology;
genetics;
Male;
Middle Aged;
Mutation;
Nuclear Proteins;
genetics;
Prognosis;
Remission Induction;
WT1 Proteins;
genetics;
Young Adult;
fms-Like Tyrosine Kinase 3;
genetics
- From:
Journal of Experimental Hematology
2013;21(3):607-612
- CountryChina
- Language:Chinese
-
Abstract:
This study was purpose to analyze the frequency and of isocitrate dehydrogenase 2 (IDH2) gene mutation in acute myeloid leukemia (AML) and its clinic significance. The multiplex polymerase chain reaction (PCR) and sequencing were performed to screen 192 AML patients for exon 4 of the IDH2 gene. FLT3, NPM1, CEBPA, c-kit and WT1 mutations were also included in analysis. The results showed that IDH2 mutation was found in 14 (7.29%) of 192 patients. There were 9 AML patients with R140Q mutation, 1 patient with R140W mutation, and 1 patient with R172K mutation. IDH2 aberrations significantly more were detected in French-American-British (FAB) M5 (P < 0.005) than other types. There was no statistical difference in age, sex, WBC, platelet count, bone marrow blasts count, hemoglobin as compared with IDH2 wild-type. For immunotype analysis, IDH2 mutation patients were more likely to express CD34 and CD13, less CD36. IDH2 mutation combined with FLT3/ITD mutation was found in 7 cases, with CEBPA mutation in 4 cases, with NPM1 mutation in 4 cases, with Dnmt3a mutation in 5 cases, neither with c-kit, IDH1 or WT1 mutation for no one, which revealed a significant interaction between IDH2 mutation and the FLT3/ITD positive genotype, Dnmt3a mutated, and IDH1 wild-type. IDH2 mutation was detected in 5 (8.47%) of 59 CN-AML. There was no significant difference of IDH2 mutation incidence between the normal and abnormal karyotype. The CR rate was higher in IDH2 R140 mutated patients than wild-type ones, but there was no significant in the two group. It is concluded that the rate of IDH2 mutation is 7.29% in Chinese AML patients and 7.81% in CN-AML. IDH2 mutation is significantly associated with AML-M5, FLT3/ITD, Dnmt3a, IDH1 wild-type and fusion gene wild-type, but not with age, leucocyte and platelet counts in peripheral blood, karyotype, NPM1, CEBPA, c-kit or WT1 mutation. And IDH2 R140 mutation has no impact on CR rate.
