摘要
目的:利用高通量测序技术检测髓系肿瘤患者的基因突变情况,并探讨其与预后的相关性。方法:回顾性分析2020年1月至2021年5月期间在北大国际医院血液科住院的56例髓系肿瘤患者,应用二代测序技术检测患者的基因突变情况,并分析不同髓系肿瘤基因突变的异同以及与疾病预后的相关性。结果:56例患者中,单例患者检出突变基因数目为0-9个,中位值为3个,最常见的突变基因为RUNX1(21.4%)、TET2(17.9%)、DNMT3A(17.9%)、TP53(14.3%)、ASXL1(14.3%)等,其中信号通路相关基因突变最多(23.3%),其次为转录因子相关基因突变(18.3%)。84%的患者携带多个突变基因(≥2),WT1与FLT3、NPM1与FLT3-ITD、MYC与FLT3等均存在明显共突变的情况。TP53突变在MDS患者中显著多见。NRAS突变患者生存期明显缩短(P=0.049);TP53突变患者与未突变患者相比预后较差,但差异未达统计学意义(P=0.08)。结论:利用二代测序技术可以更深入地了解髓系肿瘤的发病机制,对判断预后和寻找可能的治疗靶点有重要意义。
Objective:To detect the gene mutations in patients with myeloid malignancies by high-throughput sequencing and explore the correlation between gene mutations and prognosis.Methods:A retrospective analysis was performed on 56 patients with myeloid malignancies who were hospitalized in the department of hematology,Peking University International Hospital from January 2020 to May 2021.The genetic mutations of the patients were detected by next-generation sequencing technology,and the correlation between the genetic mutations and prognosis of myeloid malignancies was analyzed.Results:In 56 patients,the number of mutated genes detected in a single patient is 0-9,with a median of 3.Sequencing results showed that the most common mutated genes were RUNX1(21.4%),TET2(17.9%),DNMT3A(17.9%),TP53(14.3%)and ASXL1(14.3%),among which the most common mutations occurred in the signaling pathway-related genes(23.3%)and the transcription factor genes(18.3%).84%of the patients carried multiple mutated genes(≥2),and correlation analysis showed there were obvious co-occurring mutations between WT1 and FLT3,NPM1 and FLT3-ITD,and MYC and FLT3.TP53 mutation was more common in MDS patients.The overall survival time of patients with NRAS mutation was significantly shortened(P=0.049).The prognosis of patients with TP53 mutation was poor compared with those without TP53 mutation,but the difference wasn′t statistically significant(P=0.08).Conclusion:The application of next-generation sequencing technology is of great significance in myeloid malignancies,which is helpful to better understand the pathogenesis of the disease,to judge the prognosis and to find possible therapeutic targets.
作者
欧阳敏
江滨
张梅香
胡文青
史琳
刘建新
张亚运
王春键
王芳
张瑶
任汉云
OUYANG Min;JIANG Bin;ZHANG Mei-Xiang;HU Wen-Qing;SHI Lin;LIU Jian-Xin;ZHANG Ya-Yun;WANG Chun-Jian;WANG Fang;ZHANG Yao;REN Han-Yun(Department of Hematology,Peking University Intenational Hospital,Beijing 102206,China)
出处
《中国实验血液学杂志》
CAS
CSCD
北大核心
2023年第4期992-998,共7页
Journal of Experimental Hematology
关键词
高通量测序/二代测序
髓系肿瘤
基因突变
预后
high-throughput sequencing/next-generation sequencing
myeloid malignancies
gene mutation
prognosis
