IDH1 and IDH2 Gene Mutations Identify Novel Molecular Subsets Within De Novo Cytogenetically Normal Acute Myeloid Leukemia: A Cancer and Leukemia Group B Study
IDH1 and IDH2 Gene Mutations Identify Novel Molecular Subsets Within De Novo Cytogenetically Normal Acute Myeloid Leukemia: A Cancer and Leukemia Group B Study
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DOI：
10.1200/jco.2009.27.3730
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发表时间：
2010-05-10
影响因子：
45.3
通讯作者：
Bloomfield, Clara D.
中科院分区：
文献类型：
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作者：
Marcucci, Guido;Maharry, Kati;Bloomfield, Clara D.
PurposeTo分析的频率和预后标志物和IDH基因编码异柠檬酸脱氢酶突变的成人从头细胞遗传学正常的急性髓系白血病（CN-AML）的结果和关联IDH基因突变358例患者的诊断骨髓或血液样本进行了分析IDH 1和IDH 2突变的DNA聚合酶链反应扩增/测序。FLT 3，NPM 1，CEBPA，WT 1和MLL突变分析和基因和microRNA表达谱centralized.ResultsIDH突变发现在33%的患者。在49例患者中检测到IDH 1突变（14%; 47例R132）。在69例患者中检测到IDH 2突变，以前未在AML中报告（19%; 13例R172和56例R140）。R172 IDH 2突变与分析的所有其他预后突变互斥。年轻人（
PurposeTo analyze the frequency and associations with prognostic markers and outcome of mutations in IDH genes encoding isocitrate dehydrogenases in adult de novo cytogenetically normal acute myeloid leukemia (CN-AML).Patients and MethodsDiagnostic bone marrow or blood samples from 358 patients were analyzed for IDH1 and IDH2 mutations by DNA polymerase chain reaction amplification/sequencing. FLT3, NPM1, CEBPA, WT1, and MLL mutational analyses and gene-and microRNA-expression profiling were performed centrally.ResultsIDH mutations were found in 33% of the patients. IDH1 mutations were detected in 49 patients (14%; 47 with R132). IDH2 mutations, previously unreported in AML, were detected in 69 patients (19%; 13 with R172 and 56 with R140). R172 IDH2 mutations were mutually exclusive with all other prognostic mutations analyzed. Younger age (