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细胞遗传学分析在B细胞淋巴瘤分子诊断中的作用进展

Advances in the role of cytogenetic analysis in the molecular diagnosis of B-cell lymphomas.

作者信息

Grange Béatrice, Callet-Bauchu Evelyne, Salles Gilles, Sujobert Pierre

机构信息

a Hospices Civils de Lyon, Service d'hématologie biologique , Pierre Bénite , France.

b INSERM1052, CNRS 5286, Université Claude Bernard, Faculté de Médecine Lyon-Sud Charles Mérieux , Université de Lyon , Pierre Bénite , France.

出版信息

Expert Rev Mol Diagn. 2017 Jun;17(6):623-632. doi: 10.1080/14737159.2017.1327811. Epub 2017 May 15.

Abstract

Cytogenetic abnormalities represent essential determinants of diagnosis and prognosis in B-cell lymphomas. Their theranostic value is increasingly significant with the development of targeted therapies, in order to adapt the treatment at diagnosis as well as when relapse occurs. Areas covered: As the significance of these biomarkers is influenced by the technology used to detect them, an overview describing the strength and weakness of conventional and emerging technologies is provided. This review also updates the diverse cytogenetic abnormalities found in B-cell lymphomas, emphasizing their value in treatment decision. Expert commentary: Cytogenetics remains an essential analysis for the diagnostic work-up of lymphomas. As whole genome sequencing becomes more and more affordable routinely, the next challenge will be to recover all the information conveyed by conventional karyotype, including the analysis of the clonal architecture at the single cell level, in whole genome data.

摘要

细胞遗传学异常是B细胞淋巴瘤诊断和预后的重要决定因素。随着靶向治疗的发展,它们的诊疗价值日益显著,以便在诊断时以及复发时调整治疗方案。涵盖领域:由于这些生物标志物的重要性受到用于检测它们的技术的影响,本文提供了一份概述,描述了传统技术和新兴技术的优缺点。本综述还更新了B细胞淋巴瘤中发现的各种细胞遗传学异常,强调了它们在治疗决策中的价值。专家评论:细胞遗传学仍然是淋巴瘤诊断检查的重要分析方法。随着全基因组测序越来越常规且成本可承受,下一个挑战将是在全基因组数据中恢复传统核型所传达的所有信息,包括单细胞水平的克隆结构分析。

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