Laboratory Center, Affiliated People's Hospital of Jiangsu University, Zhenjiang, Jiangsu 212002, People's Republic of China.
Ann Hematol. 2012 Apr;91(4):519-25. doi: 10.1007/s00277-011-1352-7. Epub 2011 Oct 14.
The somatic mutations of isocitrate dehydrogenase genes (IDH1 and IDH2) have been identified in a proportion of hematologic malignancies. We examined IDH1 R132 and IDH2 R140/R172 mutations by high resolution melting analysis and direct sequencing in Chinese patients with different myeloid malignancies including 198 acute myeloid leukemia (AML), 82 myelodysplastic syndrome (MDS), 85 chronic myeloid leukemia, and 57 myeloproliferative neoplasms. IDH1 and IDH2 mutations were found in four (2.0%) and ten (5.0%) AML and in two (2.4%) and three (3.6%) MDS cases, but not in other patients. IDH1 and IDH2 mutations were heterozygous and mutually exclusive. IDH1/2 mutations were significantly more frequently observed in cytogenetically normal AML or MDS compared to those without mutations. There was no difference in overall survival of both AML and MDS patients with or without IDH1/2 mutations (P = 0.177 and 0.407, respectively). In conclusion, IDH1/2 mutations are recurrent but rare molecular aberrations in Chinese AML and MDS.
异柠檬酸脱氢酶基因（IDH1 和 IDH2）的体细胞突变已在一部分血液恶性肿瘤中被鉴定出来。我们通过高分辨率熔解分析和直接测序，在中国患有不同髓系恶性肿瘤的患者中检测了 IDH1 R132 和 IDH2 R140/R172 突变，这些患者包括 198 例急性髓系白血病（AML）、82 例骨髓增生异常综合征（MDS）、85 例慢性髓系白血病和 57 例骨髓增殖性肿瘤。在 4 例（2.0%）AML 和 2 例（2.4%）MDS 病例中发现了 IDH1 和 IDH2 突变，而在其他患者中未发现。IDH1 和 IDH2 突变均为杂合且相互排斥。与无突变者相比，IDH1/2 突变在核型正常 AML 或 MDS 中更为常见。IDH1/2 突变与 AML 和 MDS 患者的总生存率无关（P=0.177 和 0.407）。总之，IDH1/2 突变是中国 AML 和 MDS 中反复出现但罕见的分子异常。
