Objective: To evaluate the clinical significance of TET2 mutation(TET2mut) and SNP in adult acute myeloid leukemia (AML) and its effect on prognosis.
Methods: A total of 24 genes, including TET2, FLT3-ITD and NPM1, were detected in 124 adult AML patients using second-generation sequencing technology, and their clinical characteristics and effect on prognosis of patients were analyzed.
Results: A total of 25 TET2 gene mutations were detected in 124 AML patients, the mutation rate was 20.2%, there were 75 cases of TET2 single nucleotide polymorphisms(SNP), accounting for 60.5%. There were 47 cases of SNPrs2454206(G>A), accounting for 37.9%. Compared with TET2 wild-type(TET2wt) patients, TET2mut patients were mostly elderly. TET2SNP was commonly seen in male, with statistically significant differences (P<0.05). SNP rs2454206 had no significant correlation with sex and age (P>0.05). However, the analysis found that the complete remission rate of 1 course and the total complete rate (CR) of patients with TET2AG/GG were both obviously superior to those with TET2AA (P<0.05). In the univariate analysis, the overall survival(OS) rate of the patients with TET2mut was lower than that of patients with TET2wt, and the event free survival (EFS) rate was higher than that of TET2wt patients, but the difference was not statistically significant (P>0.05).The 1-year OS rate and EFS rate of the patients with TET2AA were significantly lower than those of the patients with TET2AG/GG (P<0.05). Multivariate analysis showed that TET2AA was an independent risk factor for OS and EFS in AML patients.
Conclusion: TET2 SNPrs2454206(G>A) commonly appears in patients with acute myeloid leukemia, and these patients have the better response to chemotherapy and a better prognosis.
题目: TET2突变及SNP对AML患者临床特点及预后影响的分析.
目的: 评价TET2突变(TET2mut)及SNP在成人急性髓系白血病(acute myeloid leukemia,AML)中的临床意义及对预后的影响.
方法: 利用第二代测序技术检测124例成人AML患者包括TET2,FLT3-ITD,NPM1等基因在内的共24种基因,收集并分析其对患者临床特点及对预后的影响.
结果: 124例AML患者中共检测到TET2基因突变共25例,突变率为20.2%,TET2单核苷酸多态性(single nucleotide polymorphisms,SNP)共75例,发生率为60.5%,其中SNPrs2454206(G>A)47例,发生率为37.9%。同TET2野生型(TET2wt)患者相比,TET2突变多见于老年患者。而TET2 SNP多见于男性, 差异均具有统计学意义(P<0.05)。SNP rs2454206的发生与年龄、性别等无明显相关(P>0.05)。但分析发现,TET2AG/GG的患者的1个疗程缓解率及总缓解率均明显优于TET2AA的患者(P<0.05)。在单因素分析中,TET2mut患者的总生存(overall survival,OS)率低于TET2wt患者,无事件生存(event free survival,EFS)率均高于TET2wt患者,但差异无明显统计学意义(P>0.05),而TET2AA患者的1年OS率及EFS率均明显低于TET2AG/GG的患者(P<0.05)。多因素分析结果显示,TET2AA是AML患者OS及EFS的独立危险因素.
结论: 在急性髓系白血病中TET2 SNPrs2454206(G>A)出现率较高,但对化疗的反应较好,患者预后相对良好.