文章：

B细胞淋巴瘤中MYC基因高水平扩增：它是侵袭性疾病的标志吗？

High level MYC amplification in B-cell lymphomas: is it a marker of aggressive disease?

原文发布日期：2020-01-13

DOI: 10.1038/s41408-019-0271-z

类型: Article

开放获取: 是

英文摘要：

While MYC translocations in B-cell lymphoma (BCL) have been extensively studied, the significance of MYC amplification (MYC amp) is poorly understood. This study characterizes BCL showing MYC amp, defined as uncountable FISH signals. Retrospective analysis of all BCL FISH for MYC aberrations performed at our institution (1/2010–2/2018) identified 44/9715 (0.45%) cases with MYC amp. MYC amp probe signals appeared in a cloud-like distribution (70%) or in a single homogenous-staining-region (30%). In total 59% also had MYC separation by breakapart probe indicating concurrent MYC translocation. The most common morphology was large cell (82%) and diagnosis was diffuse large BCL (DLBCL, 50%). In total 88% were germinal center B-cell-like by Hans algorithm. In total 12/42 (29%) cases were “double-hit” by WHO criteria (DHL/THL) in addition to having MYC amp. The estimated 2-year overall survival (OS) of DLBCL cases with MYC amp was 80%. There was no significant difference in OS between DLBCL and DHL/THL among cases with MYC amp, suggesting a poor prognostic impact of MYC amp. However, when compared to a larger cohort of DLBCL and DHL/THL, MYC amp did not have prognostic significance. In summary, MYC amp in BCL is rare, most commonly occurs in DLBCL, and was not associated with survival in our cohort.
 

摘要翻译： 

虽然B细胞淋巴瘤（BCL）中的MYC易位已得到广泛研究，但MYC扩增（MYC amp）的意义却鲜为人知。本研究旨在表征显示MYC扩增（定义为不可计数FISH信号）的BCL。对我们机构（2010年1月至2018年2月）进行的所有BCL FISH检测MYC异常进行的回顾性分析发现，44/9715（0.45%）的病例存在MYC扩增。MYC扩增探针信号呈云状分布（70%）或单一均匀染色区（30%）。总共59%的病例还通过断裂探针检测到MYC分离，表明同时存在MYC易位。最常见的形态学类型是大细胞（82%），诊断多为弥漫性大B细胞淋巴瘤（DLBCL，50%）。根据Hans算法，总共88%的病例为生发中心B细胞样。除MYC扩增外，根据WHO标准，总共有12/42（29%）的病例为"双重打击"淋巴瘤（DHL/THL）。伴有MYC扩增的DLBCL病例的估计2年总生存率（OS）为80%。在伴有MYC扩增的病例中，DLBCL与DHL/THL之间的总生存率无显著差异，提示MYC扩增具有不良预后影响。然而，与更大的DLBCL和DHL/THL队列相比，MYC扩增并无预后意义。总之，MYC扩增在BCL中较为罕见，最常见于DLBCL，并且在我们研究的队列中与生存率无关。

原文链接：

High level MYC amplification in B-cell lymphomas: is it a marker of aggressive disease?