基于高通量测序技术的105例AML和MDS患者驱动基因突变谱差异性分析

Differential analysis of driver gene mutation spectrum in 105 patients with AML and MDS based on high-throughput sequencing technology

目的获得西南地区急性髓系白血病(AML)和骨髓增生异常综合征(MDS)患者的基因突变谱特征,分析其差异性,探讨AML和MDS的差异性指标。方法回顾性分析2019年9月至2022年12月该院收治的71例AML患者和34例MDS患者的临床资料,将AML和MDS患者分别按年龄进行分组,年龄≥60岁纳入老年组,年龄<60岁纳入中青年组。患者住院期间均采用高通量测序技术进行基因突变谱检测,采用流式细胞术检测分化抗原。通过分析比较基因突变谱的特征,并结合细胞表面分化抗原,获得西南地区AML和MDS患者基因突变谱的差异性。结果AML和MDS患者老年组与中青年组的中位年龄比较,差异有统计学意义(P<0.05)。AML患者老年组男性比例较高,为76.2%,明显高于中青年组(P<0.05)。AML患者中DNMT3A的突变频率与年龄有关(P<0.05)。CEBPA、FLT3、RUNX1基因突变频率在AML中分别为23.9%、32.4%、9.9%,在MDS中分别2.9%、11.8%、26.5%,差异均有统计学意义(P<0.05)。结论髓系白血病患者的基因突变频率与患者的年龄和性别有一定的关系;AML和MDS有特定突变位点和突变基因,可以将以上基因突变作为临床辅助鉴别诊断的有效指标。

Objective To obtain the mutation spectrum characteristics of the patients with acute myeloid leukemia(AML)and myelodysplastic syndrome(MDS)in southwest area,to analyze their differences,and to investigate the differential indicators of AML and MDS.Methods The clinical data of 71 patients with AML and 34 patients with MDS admitted and treated in this hospital from September 2019 to December 2022 were analyzed retrospectively.The patients with AML and MDS were grouped according to their ages,those aged≥60 years old were included in the elderly group and those aged<60 year old were included in the young and middle-age group.The high-throughput sequencing technique was used to detect the gene mutation profiles in the patients during the hospitalization period and the flow cytometry was used to detect the differentiation antigens.By analyzing and comparing the characteristics of gene mutation spectrum,and combining with the cell surface differentiation antigen,the difference of gene mutation spectrum between the patients with AML and patients with MDS in southwest area was obtained.Results The median age of AML and MDS patients had the statistical difference between the elderly group and young and middle-age group(P<0.05).The proportion of male in the elderly group was 76.2%,which was significantly higher than that of the young and middle-aged group of AML patients(P<0.05).The mutation frequency of DNMT3A in the patients with AML was correlated with the age(P<0.05).The mutation frequencies of CEBPA,FLT3 and RUNX1 genes were 23.9%,32.4%and 9.9%in AML,2.9%,11.8%and 26.5%in MDS respectively,and the differences were statistically significant(P<0.05).Conclusion The frequency of gene mutation in the patients with myeloid leukemia has certain relation with the age and gender of the patients,and AML and MDS have the specific mutation sites and genes,and the above gene mutations could be used as the effective indicators for clinically assisted differential diagnosis.