[Coexisting Mutations in IDH1/2-Mutated Acute Myeloid Leukemia].

To explore the coexisting mutations in IDH-mutated acute myeloid leukemia(AML) and its relation with partial clinical parametrs.The exon 4 mutation of IDH1/2 gene was screened by using genome DNA-PCR combined with sanger sequencing, 51 targeted gene mutations in the patients with IDH1/2 mutation were detected by using high throughput DNA sequencing combined with sanger sequencing.Among 358 patients, the IDH1/2 mutation was found in 46 cases including IDH1 mutation in 35 cases and IDH2 mutation in 11 cases, 97.87%(45/46) patients with IDH1/2 mutation simultaneously carried other gene mutations including 8(17.8%) cases with mutation of double gene, 17(37.8%) cases with mutation of 3 genes and 20(44.4%) cases with mutation of ≥ 4 genes. The mutation frequency of each patient averaged 3.52 times. In mutation of accompanied genes, the common genes were NPM1(n=29, 63.0%), next DNMT3A(n=25, 54.3%), FLT3-ITD(n=7, 15.2%), TET2(n=5, 10.9%) and NRAS(n=5, 10.9%). The average WBC level of patients with NPM1 mutation in IDH1 mutation group was higher than that of patients in wild type group(P<0.05). The complete remission (CR) rate of patients with DNMT3A mutation was significant lower than that of patients with wild type (30% vs 80%, P<0.01). The presence of ≥ 4 mutations was found to be significantly associated with higher white blood level than that in the patients with double mutations(P<0.05).More than 95% AML patients with IDH1/2 mutation commonly show additional mutations. The number and the type of IDH coexisting mutations have certain effect on the clinical features and CR rate.急性髓系白血病中与IDH1/2突变共存的基因突变分析.探讨急性髓系白血病（AML）患者中与IDH1/2突变共存的基因突变及其与部分临床参数的相关性。.采用基因组DNA-PCR联合Sanger测序法筛选IDH1/2基因4号外显子突变；采用高通量DNA测序联合Sanger测序法检测IDH1/2突变患者51种肿瘤靶基因突变.358例患者中共检出46例IDH1/2突变，其中35例IDH1突变，11例IDH2突变。97.8%（45/46）IDH1/2突变患者同时携带其他基因突变，其中双基因突变8例，3个基因突变共存17例，≥4个基因突变共存20例。每例患者平均突变3.52次。伴随基因突变中最常见的基因为NPM1（n=29，63.0%），其他依次为： DNMT3A（n=25，54.3%）、FLT3-ITD(n=7，15.2%)、TET2（n=5，10.9%）及NRAS（n=5，10.9%）。在IDH1突变组中，伴NPM1突变者的平均外周血白细胞水平高于正常者，伴DNMT3A突变患者的CR率明显低于正常者，差异均有统计学意义（P=0.034，0.003）；≥4个基因突变患者的白细胞水平明显高于双基因突变者，差异显著（P=0.037）.95%以上伴IDH1/2突变的AML患者同时存在额外基因突变，基因突变个数及突变类型对患者的临床特征及CR率有一定的影响.