急性髓细胞白血病相关测序技术的研究现状  

Research status on sequencing technology related to acute myeloid leukemia

作　　者：邓文芳 李文倩[2] 解友邦[2] Deng Wenfang;Li Wenqian;Xie Youbang(Graduate School of Qinghai University,Xining 810016,Qinghai Province,China;Department of Hematology,Qinghai Provincial People′s Hospital,Xining 810000,Qinghai Province,China)

机构地区：[1]青海大学研究生院,西宁810016 [2]青海省人民医院血液科,西宁810000

出　　处：《国际输血及血液学杂志》2024年第6期461-466,共6页International Journal of Blood Transfusion and Hematology

基　　金：国家血液系统疾病临床医学研究中心转化研究课题(2021WWB04);青海省血液系统疾病临床研究中心项目(2021-SF-136)。

摘　　要：急性髓细胞白血病(AML)是一种具有高度异质性的血液肿瘤。由于AML患者接受治疗过程中病情变化复杂,目前对AML的了解仍存在不足。近年,国内、外学者聚焦于探索AML相关遗传学改变、治疗靶点、患者预后预测等方面,而测序技术在其中发挥重要作用。目前,较为常用的二代测序(NGS)技术显著提高了测序通量与速度,可大规模筛查AML相关基因突变、基因表达谱等,帮助研究者探索AML的发病机制与患者预后分层,而新兴的单细胞测序(SCS)技术则能够进一步解析AML单个细胞层面的分子遗传学信息,揭示AML细胞亚群的多样性与功能差异,为精准靶向治疗AML提供全新视角。笔者拟通过对不同测序技术在AML中的研究现状进行阐述,以期为AML的诊断、治疗相关研究提供参考。Acute myeloid leukemia(AML)is a highly heterogeneous hematological neoplasm.Due to the complex disease changes during the treatment of patients with AML,there are still deficiencies in the current understanding of AML.In recent years,researchers at home and abroad have focused on exploring genetic changes,treatment targets,prognosis,etc.of patients with AML,in which sequencing technology plays an important role.The commonly used next-generation sequencing(NGS)technology has significantly improved the sequencing throughput and speed,enabling large-scale screening of AML-related gene mutations and gene expression profiles,which helps researchers explore the pathogenesis of AML and the prognostic stratification of patients.The newly emerging single-cell sequencing(SCS)technology can further analyze the molecular genetic information at the single-cell level of AML,revealing the diversity and functional differences of cell subsets,providing a new perspective for the precise targeted treatment of AML.This article elaborates on the research status of different sequencing technologies in AML,hoping to provide references for research related to the diagnosis,treatment of AML.

关 键 词：白血病 髓样 急性 肿瘤 残余 诊断 预后 单细胞测序 微小残留病 风险分层 

分 类 号：R733.71[医药卫生—肿瘤]