机构：[1]Key Laboratory of Animal Models and Human Disease Mechanisms of the Chinese Academy of Sciences & Yunnan Province, Kunming Institute of Zoology, Kunming, Yunnan 650223, China云南省第一人民医院[2]Department of Hematology, the First Affiliated Hospital of Kunming Medical College, Kunming, Yunnan 650032, China内科科室血液内科昆明医科大学附属第一医院[3]Department of Hematology, Zhongshan Hospital, Fudan University, Shanghai 200032, China[4]Graduate School of the Chinese Academy of Sciences, Beijing 100039, China
Frequent mutations in the isocitrate dehydrogenase 1 and 2 genes (IDH1 and IDH2) have been identified in gliomas and acute myeloid leukemia (AML). Our aim is to assess whether IDH mutations were presented in Chinese patients with various hematological disorders. In this study, we screened the IDH1 and IDH2 mutations in a cohort of 456 Chinese patients with various hematological malignancies and disorders. We found three missense (p.R132C, p.R132G, and p.I99M; occurred in five patients) and one silent mutation (c.315C>T; occurred in two patients) in the IDH1 gene and two missense mutations (p.R140Q and p.R172K; occurred in four AML patients) and one silent mutation (c.435G>A) in the IDH2 gene. Except for one non-Hodgkin lymphoma (NHL) patient harboring IDH1 mutation p.R132C, all IDH1 and IDH2 missense mutations were observed in patients with AML Intriguingly, the IDH2 mutation p.R140Q and novel IDH1 mutation p.I99M co-occurred in a 75-year-old patient with AML developed from myelodysplastic syndromes (MDS). The frequency of IDH1 and IDH2 missense mutations in Chinese AML patients reached 5.9% and 8.3%, respectively. Our results supported the recent findings that IDH gene mutations were common in AML Conversely, IDH mutations were rather rare in Chinese patients with other types of hematological disorders. (C) 2010 Elsevier Inc. All rights reserved.
基金：
National Natural Science Foundation of ChinaNational Natural Science Foundation of China [30925021, 81060046]; Chinese Academy of SciencesChinese Academy of Sciences; [2009CI119]
第一作者机构：[1]Key Laboratory of Animal Models and Human Disease Mechanisms of the Chinese Academy of Sciences & Yunnan Province, Kunming Institute of Zoology, Kunming, Yunnan 650223, China[4]Graduate School of the Chinese Academy of Sciences, Beijing 100039, China
通讯作者：
推荐引用方式(GB/T 7714)：
Zou Yang,Zeng Yun,Zhang Deng-Feng,et al.IDH1 and IDH2 mutations are frequent in Chinese patients with acute myeloid leukemia but rare in other types of hematological disorders[J].BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS.2010,402(2):378-383.doi:10.1016/j.bbrc.2010.10.038.
APA：
Zou, Yang,Zeng, Yun,Zhang, Deng-Feng,Zou, Shan-Hua,Cheng, Yun-Feng&Yao, Yong-Gang.(2010).IDH1 and IDH2 mutations are frequent in Chinese patients with acute myeloid leukemia but rare in other types of hematological disorders.BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS,402,(2)
MLA：
Zou, Yang,et al."IDH1 and IDH2 mutations are frequent in Chinese patients with acute myeloid leukemia but rare in other types of hematological disorders".BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS 402..2(2010):378-383
