[Mutation of isocitrate dehydrogenase 2 (IDH2) gene in Chinese AML patients and its clinical significance].

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.

• Authors: Zhen Shang, Di Wang, Ming Xiao, Jue Wang, Tong-Juan Li, Yue-Chao Zhao, Chun-Rui Li, Jian-Feng Zhou
• Journal: Zhongguo shi yan xue ye xue za zhi (Zhongguo Shi Yan Xue Ye Xue Za Zhi) Vol. 21 Issue 3 Pg. 607-12 (Jun 2013) ISSN: 1009-2137 [Print] China
• PMID: 23815907 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• DNMT3A protein, human
• NPM1 protein, human
• Nuclear Proteins
• WT1 Proteins
• WT1 protein, human
• Nucleophosmin
• IDH2 protein, human
• Isocitrate Dehydrogenase
• DNA (Cytosine-5-)-Methyltransferases
• DNA Methyltransferase 3A
• FLT3 protein, human
• fms-Like Tyrosine Kinase 3

Topics

• Adolescent
• Adult
• Aged
• Asian People (genetics)
• DNA (Cytosine-5-)-Methyltransferases (genetics)
• DNA Methyltransferase 3A
• Female
• Genotype
• Humans
• Isocitrate Dehydrogenase (genetics)
• Karyotyping
• Leukemia, Myeloid, Acute (epidemiology, genetics)
• Male
• Middle Aged
• Mutation
• Nuclear Proteins (genetics)
• Nucleophosmin
• Prognosis
• Remission Induction
• WT1 Proteins (genetics)
• Young Adult
• fms-Like Tyrosine Kinase 3 (genetics)