322例急性髓系白血病分子遗传学分型特征的研究

Genotyping of acute myeloid leukemia in 322 cases

目的分析急性髓系白血病(AML)患者的染色体及基因改变情况,并对其进行基因分型。方法对2017年5月至2018年12月于该院就诊的322例初诊AML患者的骨髓细胞进行染色体、荧光定量PCR和二代测序检测。用WHO2016髓系白血病分型系统和NEJM2016文献定义的标准对其进行基因分型。结果322例AML患者中,95.7%的患者检测到遗传学或分子学改变;FLT3、NPM1、DNMT3A、NRAS、CEBPA双突变为最常见的5种基因改变;58.7%的AML可被分到WHO2016定义的基因型中,77.8%的AML可被分到NEJM2016定义的基因类型中,差异有统计学意义(P<0.05)。结论结合染色体和基因检测结果,依据现有的国际统一的WHO疾病分型标准,超过半数的AML可被划分到一个独立的基因型;依据NEJM2016的研究结果,更多的患者可以被划分到一个独立的基因型。

Objective To analyze the chromosomal and genetic changes of the acate myeloid leukenia(AML)patients,and to genotype them.Methods A test of chromosome,fluorescence quantitative PCR and next-generation sequencing was done for the bone marrow cells of 322 AML patients treated in Xinqiao hospital from May 1,2017 to December 31,2018.Genotyping them with the standards of WHO 2016 and NEJM 2016.Results A total of 95.7%was detected with a mutation or chromosome abnormal;FLT3,NPM1,DNMT3A,NRAS,and the CEBPA double mutation were the five most common genetic changes;58.7%were genotyped with the standards of WHO 2016,77.8%were genotyped with the standards of NEJM 2016,The difference was statistically significant.Conclusion More than half of the AML can be divided into an independent genotype combining chromosome and genetic abnormal,on the basis of the existing international unified standard of disease classification,and more basing on the NEJM 2016 research.