b细胞非霍奇金淋巴瘤的细胞基因组学:“老”与“新”的相遇

IF 2.2 4区 医学 Q3 HEMATOLOGY
Marta Grau , Cristina López , José Ignacio Martín-Subero , Sílvia Beà
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引用次数: 0

摘要

对于血液肿瘤的常规诊断,使用综合方法,考虑肿瘤样本的形态学、免疫表型和分子特征以及临床信息。主要通过常规和分子细胞遗传学在肿瘤细胞中检测到的复发性染色体畸变的鉴定和表征对淋巴肿瘤的分类具有重要影响。一些B细胞非霍奇金淋巴瘤以特定的染色体畸变为特征,突出了常规和分子细胞遗传学研究在其诊断和预后中的相关性。在当前的基因组学时代,下一代测序提供了相关信息,如血液系统恶性肿瘤的突变谱,改善了它们的分类以及患者的临床管理。此外,最近还出现了其他新技术,如光学基因组图谱,它可以克服传统和分子细胞遗传学的一些局限性,并可能在未来几年在细胞遗传学实验室中得到更广泛的应用。此外,表观遗传学改变可能补充遗传变化,以更深入地了解B细胞肿瘤的发病机制,并更准确地进行基于风险的患者分层。总的来说,我们在这里描述了基因组数据的现状,包括染色体重排、拷贝数改变和体细胞变异,以及表观基因组变化的简要概述,这些数据共同构成了B细胞非霍奇金淋巴瘤的综合诊断方法。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Cytogenomics of B-cell non-Hodgkin lymphomas: The “old” meets the “new”

For the routine diagnosis of haematological neoplasms an integrative approach is used considering the morphology, and the immunophenotypic, and molecular features of the tumor sample, along with clinical information. The identification and characterization of recurrent chromosomal aberrations mainly detected by conventional and molecular cytogenetics in the tumor cells has a major impact on the classification of lymphoid neoplasms. Some of the B-cell non-Hodgkin lymphomas are characterized by particular chromosomal aberrations, highlighting the relevance of conventional and molecular cytogenetic studies in their diagnosis and prognosis. In the current genomics era, next generation sequencing provides relevant information as the mutational profiles of haematological malignancies, improving their classification and also the clinical management of the patients. In addition, other new technologies have emerged recently, such as the optical genome mapping, which can overcome some of the limitations of conventional and molecular cytogenetics and may become more widely used in the cytogenetic laboratories in the upcoming years. Moreover, epigenetic alterations may complement genetic changes for a deeper understanding of the pathogenesis underlying B-cell neoplasms and a more precise risk-based patient stratification. Overall, here we describe the current state of the genomic data integrating chromosomal rearrangements, copy number alterations, and somatic variants, as well as a succinct overview of epigenomic changes, which altogether constitute a comprehensive diagnostic approach in B-cell non-Hodgkin lymphomas.

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来源期刊
CiteScore
4.20
自引率
0.00%
发文量
42
审稿时长
35 days
期刊介绍: Best Practice & Research Clinical Haematology publishes review articles integrating the results from the latest original research articles into practical, evidence-based review articles. These articles seek to address the key clinical issues of diagnosis, treatment and patient management. Each issue follows a problem-orientated approach which focuses on the key questions to be addressed, clearly defining what is known and not known, covering the spectrum of clinical and laboratory haematological practice and research. Although most reviews are invited, the Editor welcomes suggestions from potential authors.
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