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,未指定(DLBCL,NOS）是最常见的非霍奇金淋巴瘤（NHL）类型。2016年世界卫生组织（WHO）分类定义了DLBCL，根据临床表现，NOS及其亚型，形态学,免疫表型,和遗传学。然而,甚至在世界卫生组织的亚型中，很明显存在额外的临床和遗传异质性.大量的努力集中在利用先进的基因组技术来进一步对DLBCL进行亚分类。NOS进入临床相关亚型。这些努力导致了新算法的实施，以支持最佳的风险导向疗法和改善DLBCL患者的总体生存率。我们召集了一个国际专家组来审查有关DLBCL的最新文献，NOS,关于基因组畸变及其在诊断中可能发挥的作用，预后和治疗决策。我们全面调查了临床实验室主任/专业人员对DLBCL的基因检测实践，NOS.调查结果表明，正在使用各种诊断方法，并且对常规基因检测的进一步标准化以及新的基因检测方式的结合以帮助指导精准医学方法产生了极大的兴趣。此外,我们对DLBCL中最临床相关的基因组畸变进行了全面的文献总结，NOS.根据调查结果和文献综述，我们提出了一个标准化的，分层测试方法将帮助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。
