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.

abstractsThe 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.