Department of Hematology, Erasmus University Medical Center, Rotterdam, The Netherlands.
Blood. 2010 Sep 23;116(12):2122-6. doi: 10.1182/blood-2009-11-250878. Epub 2010 Jun 10.
Somatic mutations in isocitrate dehydrogenase 1 and 2 (IDH1 and IDH2) were recently demonstrated in acute myeloid leukemia (AML), but their prevalence and prognostic impact remain to be explored in large extensively characterized AML series, and also in various other hematologic malignancies. Here, we demonstrate in 893 newly diagnosed cases of AML mutations in the IDH1 (6%) and IDH2 (11%) genes. Moreover, we identified IDH mutations in 2 JAK2 V617F myeloproliferative neoplasias (n = 96), a single case of acute lymphoblastic leukemia (n = 96), and none in chronic myeloid leukemias (n = 81). In AML, IDH1 and IDH2 mutations are more common among AML with normal karyotype and NPM1(mutant) genotypes. IDH1 mutation status is an unfavorable prognostic factor as regards survival in a composite genotypic subset lacking FLT3(ITD) and NPM1(mutant). Thus, IDH1 and IDH2 mutations are common genetic aberrations in AML, and IDH1 mutations may carry prognostic value in distinct subtypes of AML.
异柠檬酸脱氢酶 1 和 2（IDH1 和 IDH2）的体细胞突变最近在急性髓系白血病（AML）中被证实，但它们在大型广泛特征化的 AML 系列中的流行率和预后影响仍有待探索，也在其他各种血液恶性肿瘤中探索。在这里，我们在 893 例新诊断的 AML 病例中证明了 IDH1（6%）和 IDH2（11%）基因的突变。此外，我们在 2 例 JAK2 V617F 骨髓增殖性肿瘤（n = 96）、1 例急性淋巴细胞白血病（n = 96）和 81 例慢性髓性白血病（n = 81）中发现了 IDH 突变。在 AML 中，IDH1 和 IDH2 突变在具有正常核型和 NPM1（突变）基因型的 AML 中更为常见。IDH1 突变状态是复合基因型亚组（缺乏 FLT3（ITD）和 NPM1（突变））中生存的不利预后因素。因此，IDH1 和 IDH2 突变是 AML 中常见的遗传异常，IDH1 突变在 AML 的不同亚型中可能具有预后价值。
