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肿瘤研究中的单细胞测序技术。

Single-cell sequencing technology in tumor research.

作者信息

Bai Xue, Li Yuxuan, Zeng Xuemei, Zhao Qiang, Zhang Zhiwei

机构信息

Cancer Research Institute of Hengyang Medical College, University of South China Key Laboratory of Cancer Cellular and Molecular Pathology in Hunan Province, Hunan, Hengyang 421001, China.

Department of Pathology, The First Affiliated Hospital of University of South China, Hunan, Hengyang 421001, Hunan Province, China.

出版信息

Clin Chim Acta. 2021 Jul;518:101-109. doi: 10.1016/j.cca.2021.03.013. Epub 2021 Mar 22.

Abstract

Tumor heterogeneity is a key characteristic of malignant tumors and a significant obstacle in cancer treatment and research. Although bulk tissue sequencing has wide coverage and high accuracy, it can only represent the dominant cell signal information of each sample, while masking the unique gene expression of rare cells; therefore it cannot represent genes that are unstable within a subgroup, but unchanged in a majority of cells. With the progress of genomic technology, the emergence of single-cell sequencing (SCS) has effectively solved the above problem. Genetic, transcriptomic and epigenetic sequencing at the single-cell level provides an important basis for us to correctly classify the cell subsets of heterogeneous tumor populations and to reveal the process of complex changes in tumor cells at the molecular level. Single-cell sequencing technology has been applied to the field of cancer, revealing exciting discoveries in the potential mechanisms of tumor driver gene mutation, clonal evolution, invasion and metastasis. It also provides favorable conditions for developing new tumor biomarkers and providing more accurate and individualized targeted tumor therapy. Herein, we review the steps and methods of single-cell sequencing and highlight the application of SCS in tumor diagnosis and clinical treatment.

摘要

肿瘤异质性是恶性肿瘤的关键特征,也是癌症治疗和研究中的重大障碍。尽管 bulk 组织测序具有广泛的覆盖范围和较高的准确性,但它只能代表每个样本的主要细胞信号信息,同时掩盖了稀有细胞的独特基因表达;因此,它无法代表亚组内不稳定但在大多数细胞中不变的基因。随着基因组技术的进步,单细胞测序(SCS)的出现有效解决了上述问题。单细胞水平的遗传、转录组和表观遗传测序为我们正确分类异质性肿瘤群体的细胞亚群以及在分子水平揭示肿瘤细胞复杂变化过程提供了重要依据。单细胞测序技术已应用于癌症领域,在肿瘤驱动基因突变、克隆进化、侵袭和转移的潜在机制方面揭示了令人兴奋的发现。它还为开发新的肿瘤生物标志物以及提供更准确和个性化的靶向肿瘤治疗创造了有利条件。在此,我们综述单细胞测序的步骤和方法,并重点介绍 SCS 在肿瘤诊断和临床治疗中的应用。

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