基因突变筛查对急性髓性白血病患者临床诊疗的获益对比分析

Comparative analysis of the benefit of gene mutation screening in clinical diagnosis and treatment of patients with acute myeloid leukemia

目的对比分析三种包含不同基因数目基因突变筛查在急性髓性白血病(AML)患者中的应用及帮助临床诊疗获益的情况。方法采用靶向扩增子高通量测序方法,对721例初诊AML患者分别进行包括了9种、16种和58种基因的突变检测。结果筛查9种、16种和58种基因的突变阳性率分别为66.2%、79.6%和86.4%;分别有23.2%、39.4%和56.3%的患者携带两种及以上基因突变;分别检出66种、186种和329种不同的突变组合。相比于只检测9种、16种基因指标,检测58种基因总体上能为62.4%、37.9%的患者提供更多的临床诊疗和预后判断方面的信息。结论全面的基因突变筛查有助于更加全面的评估病情,本研究为基因突变筛查方案的选择提供了有意义的量化参考信息。

Objective To compare and analyze the three types of gene mutation screening with different numbers of genes in patients with acute myeloid leukemia(AML)and the benefits of clinical diagno⁃sis and treatment.Methods Using targeted amplicon high⁃throughput sequencing methods,721 newly diag⁃nosed AML patients were tested for mutations including 9,16,and 58 genes.Results When 9,16,and 58 genes were screened,the overall mutation incidence were 66.2%,79.6%and 86.4%,respectively.Two or more mutations were detected in 23.2%,39.4%and 56.3%of patients,respectively.A total of 66,186 and 329 mutation combinations were detected,respectively.Compared with only 9 and 16 genes were tested,the detection of 58 genes can provide more information on clinical diagnosis,treatment and prognosis for a total of 62.4%and 37.9%of patients.Conclusions Comprehensive genetic mutation screening is helpful for a more comprehensive assessment of the disease.This study provides meaningful quantitative reference information for the selection of genetic mutation screening programs.