单细胞测序技术在血液系统恶性疾病克隆演变方面的研究进展  

Research progress of single-cell sequencing in clonal evolution of malignant hematologic disease

作　　者：谷文静 张磊[1] Gu Wenjing;Zhang Lei(Chinese Academy of Medieal Sciences and Peking Union Medical College,Institute of Hematology and Blood Diseases Hospital,Tianjin 300020,China)

机构地区：[1]中国医学科学院北京协和医学院血液学研究所血液病医院,天津300020

出　　处：《国际输血及血液学杂志》2018年第5期431-436,共6页International Journal of Blood Transfusion and Hematology

基　　金：国家自然科学基金面上项目（81470302）;天津市自然科学基金重点项目（15JCZDJC35800）

摘　　要：由于血液系统恶性疾病具有高度异质性，传统批量测序技术难以识别异质性细胞群体，可能丢失在疾病克隆演变中起重要作用的信息。单细胞测序技术的迅速发展，使其可在单个细胞水平进行全基因组、转录组及表观遗传组学分析，有利于揭示肿瘤异质性，追踪细胞谱系，理解肿瘤克隆演变的复杂机制，从而为肿瘤的早期识别、治疗指导、预后评估与复发监测成为可能。笔者拟就单细胞测序技术的原理、检测流程、存在的挑战及未来发展方向进行综述，并且探讨其在血液系统恶性疾病克隆演变方面的研究进展及应用价值。The malignant hematologic diseases are highly heterogeneous. The traditional bulk sequencing is difficult to identify the heterogeneous cell population, and may lose the information that plays an important role in the evolution of these kinds of diseases. The rapid development of single-cell sequencing technology promises to address key issues in the aspects of genomics, transcriptomics and epigenomics, including resolving intratumor heterogeneity, tracing cell lineages, understanding the mechanisms of clonal evolution. It is helpful in early clinical diagnosis, treatment, assess of prognosis and monitoring recurrence of tumor. The authors review the principles, working processes, challenges of single-cell sequencing, and explore the application values and research progresses in clonol evolution of malignant hematologic diseases.

关 键 词：单细胞分析 序列分析 DNA 高通量核苷酸测序 血液肿瘤 克隆演变 

分 类 号：R733[医药卫生—肿瘤]