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山东大学学报 (医学版) ›› 2019, Vol. 57 ›› Issue (7): 50-54.doi: 10.6040/j.issn.1671-7554.0.2019.428

• • 上一篇    

高通量基因测序技术在淋巴瘤中的应用进展

王欣   

  1. 山东大学附属省立医院血液内科, 山东 济南 250021
  • 发布日期:2022-09-27
  • 通讯作者: 王欣. E-mail:xinw007@126.com

Development of gene sequencing in the diagnosis and treatment of lymphoma

WANG Xin   

  1. Department of Hematology, Shandong Provincial Hospital Affiliated to Shandong University, Jinan 250021, Shandong, China
  • Published:2022-09-27

摘要: 近年来,基于全基因组的高通量测序技术发展迅速,由于其速度快、准确率高、成本低等优点,目前已广泛应用在临床医学的各个领域,为亚型众多、治疗复杂的淋巴瘤研究带来了革命性变化,为筛选淋巴瘤的特异性诊断标志、研究疾病的发病机制、寻找预后指标及促进新药研发起到了极大的推动作用。

关键词: 淋巴瘤, 高通量测序, 基因组测序

Abstract: High-throughput sequencing technology based on whole-genome sequences has developed rapidly in recent years. Thanks to its high speed, high accuracy and low cost, it has been widely used in various fields of clinical medicine. It has also brought revolutionary changes for the diagnosis and treatment of numerous subtypes of lymphomas. The high-throughput sequencing has greatly promoted the development of lymphoma research, including screening specific diagnostic markers, exploring the pathogenesis of the diseases, finding prognostic indicators and promoting new drug development.

Key words: Lymphoma, High-throughput sequencing, Gene sequencing

中图分类号: 

  • R733.4
[1] Sanger F, Nicklen S, Coulson AR. DNA sequencing with chain-terminating inhibitors [J]. Proc Natl Acad Sci USA, 1977, 74(12): 5463-5467.
[2] Maxam AM, Gilbert W. A new method for sequencing DNA [J]. Proc Nati Acad Sci, 1977, 74(2): 560-564.
[3] Mardis ER. Next-generation DNA sequencing methods [J]. Annu Rev Genomics Hum Genet, 2008, 9(1): 387-402.
[4] Schuster SC. Next-generation sequencing transforms todays biology [J]. Nat Methods, 2008, 5(1): 16-18.
[5] Sultan M, Schulz MH, Richard H, et al. A global view of gene activity and alternative splicing by deep sequencing of the human transcriptome [J]. Science, 2008, 321(5891): 956-960.
[6] Sabattini E, Bacci F, Sagramoso C, et al. WHO classification of tumours of haematopoietic and lymphoid tissues in 2008: an overview [J]. Pathologica, 2010, 102(3): 83-87.
[7] Aoki R, Karube K, Sugita Y, et al. Distribution of malignant lymphoma in Japan: Analysis of 2260 cases, 2001-2006 [J]. Pathol Int, 2008, 58(3): 174-182.
[8] Taylor J, Xiao W, Abdel-Wahab O.Diagnosis and classification of hematologic malignancies on the basis of genetics [J]. Blood, 2017, 130(4): 410-423.
[9] Dobashi A. Molecular pathogenesis of diffuse Large B-cell lymphoma [J]. J Clin Exp Hematop, 2016, 56(2): 71-78.
[10] Gunawardana J, Chan FC, Telenius A, et al. Recurrent somatic mutations of PTPN1 in primary mediastinal B cell lymphoma and Hodgkin lymphoma [J]. Nature Genetics, 2014, 46(4): 329-335.
[11] Reddy A, Zhang J, Davis NS, et al. Genetic and functional drivers of diffuse large b cell lymphoma [J]. Cell, 2017, 171(2): 481-494.
[12] Zhang J, Grubor V, Love CL,et al. Genetic heterogeneity of diffuse large B-cell lymphoma[J]. Proc Natl Acad Sci USA, 2013, 110(4): 1398-1403.
[13] Mareschal S, Dubois S, Viailly PJ, et al. Whole exome sequencing of relapsed/refractory patients expands the repertoire of somatic mutations in diffuse large B-cell lymphoma [J]. Genes Chromosomes Cancer, 2016, 55(3): 251-267.
[14] Novak AJ, Asmann YW, Maurer MJ, et al. Whole-exome analysis reveals novel somatic genomic alterations associated with outcome in immunochemotherapy-treated diffuse large B-cell lymphoma [J]. Blood Cancer Journal, 2015, 5(8): e346.
[15] Cornish AJ, Hoang PH, Dobbins SE, et al. Identification of recurrent noncoding mutations in B-cell lymphoma using capture Hi-C [J]. Blood Advances, 2019, 3(1): 21-32.
[16] Kridel R, Meissner B, Rogic S, et al. Whole transcriptome sequencing reveals recurrent NOTCH1 mutations in mantle cell lymphoma [J]. Blood, 2012, 119(9): 1963-1971.
[17] Bea S, Valdes-Mas R, Navarro A, et al. Landscape of somatic mutations and clonal evolution in mantle cell lymphoma [J]. Proc Natl Acad Sci USA, 2013, 110(45): 18250-18255.
[18] Chiron D, Di Liberto M, Martin P, et al. Cell-cycle reprogramming for PI3K inhibition overrides a relapse-specific C481S BTK mutation revealed by longitudinal functional genomics in mantle cell lymphoma [J]. Cancer Discovery, 2014, 4(9): 1022-1035.
[19] Yang QP, Zhang WY, Yu JB, et al. Subtype distribution of lymphomas in Southwest China: Analysis of 6, 382 cases using WHO classification in a single institution [J]. Diagn Pathol, 2011, 6(1): 77.
[20] Xiong J, Zhao WL. Advances in multiple omics of natural-killer/T cell lymphoma [J]. J Hematol Oncol, 2018, 11: 134. doi:10.1186/s13045-018-0678-1.
[21] Jiang L, Gu ZH, Yan ZX, et al. Exome sequencing identifies somatic mutations of DDX3X in natural killer/T-cell lymphoma [J]. Nat Genet, 2015, 47(9): 1061-1066.
[22] Palser AL, Grayson NE, White RE, et al. Genome diversity of epstein-barr virus from multiple tumor types and normal infection [J]. J Virol, 2015, 89(10): 5222-5237.
[23] Peng RJ, Han BW, Cai QQ, et al. Genomic and transcriptomic landscapes of Epstein-Barr virus in extranodal natural killer T-cell lymphoma [J]. Leukemia, 2018. doi:10.1038/s41375-018-0324-5.
[24] Lau CC, Sun T, Ching AK, et al. Viral-human chimeric transcript predisposes risk to liver cancer development and progression [J]. Cancer Cell, 2014, 25(3): 335-349.
[25] Check Hayden E. Genome sequencing: the third generation [J]. Nature, 2009, 457(7231): 768-769.
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