文章：

在免疫特权部位出现的弥漫性大b细胞淋巴瘤中，MYD88和CD79B突变的高患病率

High prevalence of oncogenic MYD88 and CD79B mutations in diffuse large B-cell lymphomas presenting at immune-privileged sites

原文发布日期：2013-09-06

DOI: 10.1038/bcj.2013.28

类型: Original Article

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英文摘要：

Activating mutations in CD79 and MYD88 have recently been found in a subset of diffuse large B-cell lymphoma (DLBCL), identifying B-cell receptor and MYD88 signalling as potential therapeutic targets for personalized treatment. Here, we report the prevalence of CD79B and MYD88 mutations and their relation to established clinical, phenotypic and molecular parameters in a large panel of DLBCLs. We show that these mutations often coexist and demonstrate that their presence is almost mutually exclusive with translocations of BCL2, BCL6 and cMYC, or Epstein–Bar virus infection. Intriguingly, MYD88 mutations were by far most prevalent in immune-privileged site-associated DLBCL (IP-DLBCL), presenting in central nervous system (75%) or testis (71%) and relatively uncommon in nodal (17%) and gastrointestinal tract lymphomas (11%). Our results suggest that MYD88 and CD79B mutations are important drivers of IP-DLBCLs and endow lymphoma-initiating cells with tissue-specific homing properties or a growth advantage in these barrier-protected tissues.

摘要翻译： 

近期研究发现，在一部分弥漫性大B细胞淋巴瘤（DLBCL）中存在CD79和MYD88的激活突变，这表明B细胞受体和MYD88信号通路可能成为个性化治疗的潜在靶点。本文通过分析大量DLBCL样本，报告了CD79B和MYD88突变的发生率及其与已知临床、表型和分子参数的关系。我们发现这些突变常同时存在，且几乎与BCL2、BCL6和cMYC易位或EB病毒感染相互排斥。值得注意的是，MYD88突变在免疫特权部位相关DLBCL（IP-DLBCL）中最为常见——中枢神经系统（75%）和睾丸（71%），而在淋巴结（17%）和胃肠道淋巴瘤（11%）中相对少见。这些结果表明，MYD88和CD79B突变是驱动IP-DLBCL发生的关键因素，它们赋予淋巴瘤起始细胞组织特异性归巢能力，或在这些受屏障保护的组织中赋予生长优势。

原文链接：

High prevalence of oncogenic MYD88 and CD79B mutations in diffuse large B-cell lymphomas presenting at immune-privileged sites