《生命科学》 2018, 30(1): 63-73

循环肿瘤细胞单细胞测序——液体活检的新视角

赵丽娜，赵晓航*

(国家癌症中心/中国医学科学院北京协和医学院肿瘤医院，分子肿瘤学国家重点实验室，北京 100021)

摘　要：摘　要：循环肿瘤细胞是实体肿瘤原发灶或转移灶侵袭、脱落进入外周血的，具有高活力、高转移潜能的肿瘤细胞。由于肿瘤存在异质性，导致肿瘤组织高通量测序分析难以发现低丰度肿瘤干细胞的基因组特征。循环肿瘤细胞单细胞测序，通过比较患者外周血循环肿瘤细胞、肿瘤原发灶和转移灶及转移淋巴结中单细胞基因组、转录组和表观遗传组的差异，避免肿瘤异质性的干扰，为认识肿瘤的生物学进程提供了全新视角。现综述了运用单细胞测序技术分析实体肿瘤外周血循环肿瘤细胞基因组变异的主要技术和研究进展。

Single cell sequencing analysis of circulating tumor cells: a new horizon of liquid biopsy

ZHAO Li-Na， ZHAO Xiao-Hang*

(State Key Laboratory of Molecular Oncology， National Cancer Center/Cancer Hospital， Chinese Academy of Medical Sciences & Peking Union Medical College， Beijing 100021， China)

Abstract: Abstract: Circulating tumor cells (CTCs)， shed from primary or metastatic tumors， have high activity and metastatic potential. Due to the tumor heterogeneity， it is challenging to discern the real information of genomic characteristics of low abundant tumor cells， such as tumor stem cells， by traditional high-throughput sequencing of tumor tissues. Conducting aggregate analysis of CTCs， primary and metastatic tumor lesions as well as lymph node through single cell sequencing can compare genomic， transcriptomic and epigenomic differences without the interference of heterogeneity， and these new technologies provide a new perspective to explore the biological process of cancer. We reviewed recent progress on single-cell genomic sequencing technique and its applications in analysis of CTCs in peripheral blood from cancer patients.