文章：

MYC、BCL2 和 BCL6 的体细胞拷贝数增加可识别出一组侵袭性 alternative-DH/TH DLBCL 患者亚群

Somatic copy number gains in MYC, BCL2, and BCL6 identifies a subset of aggressive alternative-DH/TH DLBCL patients

原文发布日期：2020-11-09

DOI: 10.1038/s41408-020-00382-3

类型: Article

开放获取: 是

英文摘要：

Double/triple hit lymphoma (DH/TH), known as high-grade B-cell lymphoma (HGBL), is an aggressive diffuse large B cell lymphoma (DLBCL), defined as having concurrent MYC, BCL2, and/or BCL6 gene rearrangements. While gene rearrangements represent significant genetic events in cancer, copy number alterations (CNAs) also play an important role, and their contributions to rearrangements have yet to be fully elucidated. Using FISH and high-resolution CNA data, we defined the landscape of concurrent gene rearrangements and copy gains in MYC, BCL2, and BCL6, in a cohort of 479 newly diagnosed DLBCL. We also show that concurrent translocations and copy number alterations, in combinations similar to DH/TH, identify a unique subset of DLBCL, alternative DH/TH, that have survival outcomes similar to DH/TH DLBCL patients.
 

摘要翻译： 

双打击/三打击淋巴瘤（DH/TH）被称为高分级B细胞淋巴瘤（HGBL），是一种侵袭性弥漫大B细胞淋巴瘤（DLBCL），其定义为同时存在MYC、BCL2和/或BCL6基因重排。虽然基因重排是癌症中重要的遗传事件，但拷贝数变异（CNAs）同样发挥着重要作用，且其对基因重排的影响尚未完全阐明。通过运用FISH技术和高分辨率CNA数据，我们在479例新诊断DLBCL队列中绘制了MYC、BCL2和BCL6基因同步重排与拷贝数增加的图谱。研究还发现，与DH/TH相似的同步易位和拷贝数变异组合可界定一个独特的DLBCL亚群——替代性DH/TH，该亚群患者的生存结局与DH/TH型DLBCL患者相似。

原文链接：

Somatic copy number gains in MYC, BCL2, and BCL6 identifies a subset of aggressive alternative-DH/TH DLBCL patients