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基于证据的弥漫性大 B 细胞淋巴瘤、非特指型(DLBCL,NOS)基因组异常的综述:癌症基因组联合会淋巴瘤工作组的报告。

Evidence-based review of genomic aberrations in diffuse large B cell lymphoma, not otherwise specified (DLBCL, NOS): Report from the cancer genomics consortium lymphoma working group.

机构信息

Department of Pathology, Microbiology and Immunology, Vanderbilt University Medical Center, Nashville, TN 37215, United States.

Genetics Associates Inc., Nashville, TN, United States.

出版信息

Cancer Genet. 2022 Nov;268-269:1-21. doi: 10.1016/j.cancergen.2022.07.006. Epub 2022 Aug 4.

DOI:10.1016/j.cancergen.2022.07.006
PMID:35970109
Abstract

Diffuse large B cell lymphoma, not otherwise specified (DLBCL, NOS) is the most common type of non-Hodgkin lymphoma (NHL). The 2016 World Health Organization (WHO) classification defined DLBCL, NOS and its subtypes based on clinical findings, morphology, immunophenotype, and genetics. However, even within the WHO subtypes, it is clear that additional clinical and genetic heterogeneity exists. Significant efforts have been focused on utilizing advanced genomic technologies to further subclassify DLBCL, NOS into clinically relevant subtypes. These efforts have led to the implementation of novel algorithms to support optimal risk-oriented therapy and improvement in the overall survival of DLBCL patients. We gathered an international group of experts to review the current literature on DLBCL, NOS, with respect to genomic aberrations and the role they may play in the diagnosis, prognosis and therapeutic decisions. We comprehensively surveyed clinical laboratory directors/professionals about their genetic testing practices for DLBCL, NOS. The survey results indicated that a variety of diagnostic approaches were being utilized and that there was an overwhelming interest in further standardization of routine genetic testing along with the incorporation of new genetic testing modalities to help guide a precision medicine approach. Additionally, we present a comprehensive literature summary on the most clinically relevant genomic aberrations in DLBCL, NOS. Based upon the survey results and literature review, we propose a standardized, tiered testing approach which will help laboratories optimize genomic testing in order to provide the maximum information to guide patient care.

摘要

弥漫性大 B 细胞淋巴瘤,非特指型(DLBCL,NOS)是非霍奇金淋巴瘤(NHL)中最常见的类型。2016 年世界卫生组织(WHO)分类基于临床发现、形态学、免疫表型和遗传学定义了 DLBCL,NOS 及其亚型。然而,即使在 WHO 亚型内,也显然存在额外的临床和遗传异质性。已经有大量的努力集中在利用先进的基因组技术将 DLBCL,NOS 进一步细分为具有临床相关性的亚型。这些努力导致了新算法的实施,以支持针对风险的最佳治疗,并改善 DLBCL 患者的总体生存率。我们召集了一组国际专家,就有关弥漫性大 B 细胞淋巴瘤,NOS 的基因组异常及其在诊断、预后和治疗决策中可能发挥的作用审查了当前的文献。我们全面调查了临床实验室主任/专业人员有关弥漫性大 B 细胞淋巴瘤,NOS 的基因检测实践。调查结果表明,正在使用各种诊断方法,并且强烈希望进一步标准化常规基因检测,同时纳入新的基因检测方法,以帮助指导精准医学方法。此外,我们还全面总结了弥漫性大 B 细胞淋巴瘤,NOS 中最具临床相关性的基因组异常。根据调查结果和文献综述,我们提出了一种标准化的分层测试方法,这将有助于实验室优化基因组测试,以提供最大的信息来指导患者护理。

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