摘要
目的探讨二代测序技术在急性髓系白血病(AML)患者病情监测以及治疗决策中的应用价值。方法选取2020年2月至2021年1月在河南神火集团总医院接受治疗的110例AML患者作为研究对象,依据WHO髓系白血病分型标准(2008年)将患者分为正常核型、低危核型、中危核型及高危核型,分析不同核型突变/融合基因情况及预后情况。结果110例患者中,共检出突变/融合基因322个,其中存在2个或2个以上突变/融合基因患者76例(69.09%);其中以核鳞蛋白(NPM1)突变、tet癌基因家族成员2(TET2)突变及Wilms瘤基因(WT1)过表达发生频率最高;通过比较正常核型组与异常核型组发现,正常核型组患者基因突变发生率明显低于核型异常组,差异有统计学意义(P<0.05)。通过对异常核型组内部的三组进行比较发现,核型异常组中中危核型组、高危核型组患者ASXL1、TET2及DMNT3A突变发生频率显著高于低危核型组,ASXL1突变率显著低于低危、中危核型组,差异有统计学意义(P<0.05);年龄<50岁、正常核型组患者中位生存期、无白血病生存期显著高于年龄≥50岁、其他核型患者,差异有统计学意义(P<0.05)。结论不同核型分组、不同年龄患者的基因突变类型、发生频率存在显著差异,而年龄>50岁且伴有基因突变患者的生存期、无白血病生存期相对较短,预后较差。
Objective To explore the application value of second-generation sequencing technology in the condition monitoring and treatment decision-making of patients with acute myeloid leukemia(AML).Methods A total of 110 AML patients who were treated in Henan Shenhuo Group General Hospital from February 2020 to January 2021 were selected as the study subjects.According to the WHO classification standard for myeloid leukemia(2008),the patients were divided into normal karyotype,low-risk karyotype,medium-risk karyotype and high-risk karyotype,and the mutation/fusion genes of different karyotypes and prognosis were analyzed.Results 322 mutation/fusion genes were detected in 110 patients,of which 76 patients(69.09%)had 2 or more mutation/fusion genes;Among them,NPM1 mutation,TET oncogene family member 2(TET2)mutation and Wilms tumor gene(WT1)overexpression were the most frequent;By comparing the normal karyotype group with the abnormal karyotype group,it was found that the incidence of gene mutation in the normal karyotype group was significantly lower than that in the abnormal karyotype group,with a statistically significant difference(P<0.05).By comparing the three groups in the abnormal karyotype group,it was found that the frequency of ASXL1,TET2 and DMNT3A mutations in the medium-risk karyotype group and the high-risk karyotype group in the abnormal karyotype group was significantly higher than that in the low-risk karyotype group,and the ASXL1 mutation rate was significantly lower than that in the low-risk and medium-risk karyotype groups,with statistical significance(P<0.05);The median survival time and leukemia free survival time of patients with age<50 years and normal karyotype were significantly higher than those with age≥50 years and other karyotypes(P<0.05).Conclusion There are significant differences in the type and frequency of gene mutation among patients with different karyotype groups and different ages.The survival period and leukemia free survival period of patients with age>50 years and gene mutation are relatively short,and the prognosis is poor.
作者
赵德亮
ZHAO Deliang(Department of Laboratory,Henan Shenhuo Group General Hospital,Shangqiu Henan 476600,China)
出处
《临床研究》
2023年第1期1-4,共4页
Clinical Research
关键词
二代测序技术
急性髓系白血病(AML)
病情监测
预后
second-generation sequencing technology
acute myeloid leukemia(AML)
disease monitoring
prognosis
