单细胞测序技术在乳腺癌中的研究进展

doi:10.11904/j.issn.1002-3070.2023.03.016

摘要/Abstract

摘要： 乳腺癌是全球女性发病率最高的恶性肿瘤,也是女性癌症死亡的主要原因之一。越来越多的研究表明乳腺癌是一种高度异质性疾病,传统高通量测序技术对乳腺癌的发生发展、精确分型、诊断及治疗方面提供了重要参考,但仍有局限性,无法揭示肿瘤内异质性。与传统测序技术相比,单细胞测序技术在灵敏度、准确度和工作效率方面都得到极大的提高,该技术可以分析复杂混合细胞中单个细胞的分子生物学信息,应用在肿瘤异质性方面展现出极大的优越性。包括从单细胞层面解析乳腺癌转录组图谱、探索乳腺癌微环境异质性、探索乳腺癌转移与耐药发生机制、探索乳腺癌克隆异质性及其演化研究。本文对近年来单细胞测序技术在乳腺癌中的相关研究进展进行综述,旨在为乳腺癌单细胞测序技术研究提供理论参考。

关键词: 单细胞测序, 乳腺癌, 异质性

Abstract: Breast cancer is a malignant tumor with the highest incidence among women in the world,and it is also one of the main causes of cancer death among women.More and more studies have shown that breast cancer is a highly heterogeneous disease.Traditional high-throughput sequencing technology provides an important reference for the occurrence and development,accurate typing,diagnosis and treatment of breast cancer,but it still has limitations and cannot reveal the heterogeneity within the tumor.Compared with traditional sequencing technology,single-cell sequencing technology has been greatly improved in the sensitivity,accuracy and efficiency.This technology can analyze the molecular biological information of single cells in complex mixed cells,and show great advantages in tumor heterogeneity.It includes analyzing the transcriptome map of breast cancer from the single-cell level,exploring the heterogeneity of breast cancer microenvironment,exploring the mechanism of breast cancer metastasis and drug resistance,and exploring the clonal heterogeneity and evolution of breast cancer.This article reviews the recent research progress of single-cell sequencing technology for breast cancer in recent years,aiming to provide a theoretical reference for single-cell sequencing technology in breast cancer.

Key words: Single cell sequencing, Breast cancer, Heterogeneous

中图分类号:

R737.9

杨帅, 王新恒, 吴佳乐, 付子彤, 魏博, 杨灵冰, 许守平. 单细胞测序技术在乳腺癌中的研究进展[J]. 实用肿瘤学杂志, 2023, 37(3): 287-292.

YANG Shuai, WANG Xinheng, WU Jiale, FU Zitong, WEI Bo, YANG Lingbing, XU Shouping. Research progress of single-cell sequencing technology in breast cancer[J]. Journal of Practical Oncology, 2023, 37(3): 287-292.

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链接本文: http://journal09.magtechjournal.com/Jwk3_syzlxzz/CN/10.11904/j.issn.1002-3070.2023.03.016

http://journal09.magtechjournal.com/Jwk3_syzlxzz/CN/Y2023/V37/I3/287

参考文献

1 Sung H,Ferlay J,Siegel RL,et al.Global cancer statistics 2020:GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185 countries[J].CA Cancer J Clin,2021,71 (3):209-249.
2 Ramsköld D,Luo S,Wang YC,et al.Full-length mRNA-Seq from single-cell levels of RNA and individual circulating tumor cells[J].Nat Biotechnol,2012,30 (8):777-782.
3 Yan LY,Yang MY,Guo HS,et al.Single-cell RNA-Seq profiling of human preimplantation embryos and embryonic stem cells[J].Nat Struct Mol Biol,2013,20 (9):1131-1139.
4 Mardis,ER.The impact of next-generation sequencing technology on genetics[J].Trends Genet,2008,24(3):p.133-141.
5 Tang FC,Barbacioru C,Wang YZ,et al.mRNA-Seq whole-transcriptome analysis of a single cell[J].Nat Methods,2009,6 (5):377-382.
6 Karaayvaz M,Cristea S,Gillespie SM,et al.Unravelling subclonal heterogeneity and aggressive disease states in TNBC through single-cell RNA-seq[J].Nat Commun,2018,9 (1):3588.
7 Kim C,Gao RI,Sei E,et al.Chemoresistance evolution in triple-negative breast cancer delineated by single-cell sequencing[J].Cell,2018,173 (4):879-893.
8 Wu SZ,Roden DL,Wang CF,et al.Stromal cell diversity associated with immune evasion in human triple-negative breast cancer[J].Embo J,2020,39 (19):e104063.
9 Hassiotou F,Geddes D.Anatomy of the human mammary gland:Current status of knowledge[J].Clin Anat,2013,26 (1):29-48.
10 Russo J,Rivera R,Russo IH,et al.Influence of age and parity on the development of the human breast[J].Breast Cancer Res Treat,1992,23 (3):211-218.
11 Gusterson B,Stein T.Human breast development[J].Semin Cell Dev Biol,2012,23 (5):567-573.
12 Nguyen Q,Pervolarakis N,Blake K,et al.Profiling human breast epithelial cells using single cell RNA sequencing identifies cell diversity[J].Nat Commun,2018,9 (1):2028.
13 Bach K,Pensa S,Grzelak M.Differentiation dynamics of mammary epithelial cells revealed by single-cell RNA sequencing[J].Nat Commun,2017,8 (1):2128.
14 Bhat N,Poornima,G Hongyu S,et al.A single-cell atlas of the healthy breast tissues reveals clinically relevant clusters of breast epithelial cells[J].Cell Rep Med,2021,2 (3):100219.
15 Kumar T,Nee K,Wei R,et al.A spatially resolved single cell genomic atlas of the adult human breast[J].Nature,2023,28.
16 Visvader J,Stingl J,et al.Mammary stem cells and the differentiation hierarchy:current status and perspectives[J].Genes Dev,2014,28 (11):1143-1158.
17 Gray G,Carman M,Rosenbluth J,et al.A human breast atlas integrating single-cell proteomics and transcriptomics[J].Dev Cell,2022,57 (11):1400-1420.
18 Wu S,Al-Eryani G,Roden D,et al.A single-cell and spatially resolved atlas of human breast cancers[J].Nat Genet,2021,53 (9):1334-1347.
19 Yan X,Xie Y,Yang F,et al.Comprehensive description of the current breast cancer microenvironment advancements via single-cell analysis[J].J Exp Clin Cancer Res:CR,2021,40 (1):142.
20 Cha YJ,Koo JS.Role of tumor-associated myeloid cells in breast cancer[J].Cells,2020,9(8):1785.
21 Sinha VC,Rinkenbaugh AL,Xu M,et al.Single-cell evaluation reveals shifts in the tumor-immune niches that shape and maintain aggressive lesions in the breast[J].Nat Commun,2021,12(1):5024.
22 Timperi E,Gueguen P,Molgora M,et al.Lipid-associated macrophages are induced by cancer-associated fibroblasts and mediate immune suppression in breast cancer[J].Cancer Res,2022,82(18):3291-3306.
23 Tan ZY,Kan C,Sun MQ,et al.Mapping breast cancer microenvironment through single-cell omics[J].Front Immunol,2022,13:868813.
24 Houthuijzen JM,Bruijn R,Burg E,et al.CD26-negative and CD26-positive tissue-resident fibroblasts contribute to functionally distinct CAF subpopulations in breast cancer[J].Nat Commun,2023,14 (1):183.
25 Bartoschek M,Oskolkov N,Bocci M,et al.Spatially and functionally distinct subclasses of breast cancer-associated fibroblasts revealed by single cell RNA sequencing[J].Nat Commun,2018,9 (1):5150.
26 Xu K,Wang RT,Xie H,et al.Single-cell RNA sequencing reveals cell heterogeneity and transcriptome profile of breast cancer lymph node metastasis[J].Oncogenesis,2021,10 (10):66.
27 Davis RT,Blake K,Ma D,et al.Transcriptional diversity and bioenergetic shift in human breast cancer metastasis revealed by single-cell RNA sequencing[J].Nat Cell Biol,2020,22 (3):310-320.
28 Prieto-Vila M,Usuba W,Takahashi RU,et al.Single-cell analysis reveals a preexisting drug-resistant subpopulation in the luminal breast cancer subtype[J].Cancer Res,2019,79 (17):4412-4425.
29 Rani A,Stebbing J,Giamas G,et al.Endocrine resistance in hormone receptor positive breast cancer-from mechanism to therapy[J].Front Endocrinol (Lausanne),2019,10:245.
30 Osborne CK.Tamoxifen in the treatment of breast cancer[J].N Engl J Med,1998,339(22):1609-1618.
31 Early Breast Cancer Trialists′Collaborative Group (EBCTCG).Effects of chemotherapy and hormonal therapy for early breast cancer on recurrence and 15-year survival:an overview of the randomised trials[J].Lancet,2005,365(9472):1687-1717.
32 Griffiths JI,Chen J,Cosgrove PA,et al.Serial single-cell genomics reveals convergent subclonal evolution of resistance as early-stage breast cancer patients progress on endocrine plus CDK4/6 therapy[J].Nat Cancer,2021,2 (6):658-671.
33 Gao Y,Wu N,Wang S,et al.Concurrent mutations associated with trastuzumab-resistance revealed by single cell sequencing[J].Breast Cancer Res Treat,2021,187 (3):613-624.
34 Roulot A,Héquet D,Guinebretière JM,et al.Tumoral heterogeneity of breast cancer[J].Ann Biol Clin (Paris),2016,74 (6):653-660.
35 Ding SN,Chen XS,Shen KW.Single-cell RNA sequencing in breast cancer:Understanding tumor heterogeneity and paving roads to individualized therapy[J].Cancer Commun (Lond),2020,40 (8):329-344.
36 Liu SQ,Gao ZJ,Wu J,et al.Single-cell and spatially resolved analysis uncovers cell heterogeneity of breast cancer[J].J Hematol Oncol,2022,15 (1):19.
37 Gambardella G,Viscido G,Tumaini B,et al.A single-cell analysis of breast cancer cell lines to study tumour heterogeneity and drug response[J].Nat Commun,2022,13 (1):1714.
38 Baslan T,Kendall J,Volyanskyy K,et al.Novel insights into breast cancer copy number genetic heterogeneity revealed by single-cell genome sequencing[J].Elife,2020,9:e51480.

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