Aims To (1) reclassify ocular adnexal large B-cell lymphomas (OA-LBCLs) per 2016 WHO lymphoma classification and (2) determine the prevalence of MYD88 and CD79B mutations and their association with clinical parameters among OA-LBCLs. Methods This study is a retrospective analysis of all OA-LBCLs diagnosed in Denmark between 1980 and 2018. Medical records and tissue samples were retrieved. Thirty-four OA-LBCLs were included. Fluorescence in situ hybridisation and Epstein-Barr-encoded RNA in situ hybridisation were used for the reclassification. Mutational status was established by allele-specific PCR and confirmed by Sanger sequencing. Primary endpoints were overall survival, disease-specific survival (DSS) and progression-free survival (PFS). Results Two LBCL subtypes were identified: diffuse large B-cell lymphoma (DLBCL) (27 of 32; 84%) and high-grade B-cell lymphoma (HGBL) with MYC and BCL2 and/or BCL6 rearrangements (5 of 32; 16%). cMYC/BCL2 double-expressor DLBCLs had a poorer DSS than non-double-expressor DLBCLs (5-year DSS, 25% vs 78%) (HR 0.23; 95% CI 0.06 to 0.85; p=0.014). MYD88 mutations were present in 10 (29%) of 34 lymphomas and carried a poorer PFS than wild-type cases (5-year PFS, 0% vs 43%) (HR 0.78; 95% CI 0.61 to 0.98; p=0.039). CD79B mutations were present in 3 (9%) of 34 cases. Conclusion OA-LBCL consists mainly of two subtypes: DLBCL and HGBL with MYC and BCL2 and/or BCL6 rearrangements. MYD88 mutations are important drivers of OA-LBCL. MYD88 mutations, as well as cMYC/BCL2 double-expressor DLBCL, appear to be associated with a poor prognosis. Implementing MYD88 mutational analysis in routine diagnostics may improve OA-LBCL prognostication. Data are available upon reasonable request. Data are available on request from the authors.

中文翻译：

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MYD88 和 CD79B 突变在眼附件大 B 细胞淋巴瘤中的患病率和预后价值：眼附件大 B 细胞淋巴瘤的重新分类

目的 (1) 根据 2016 年 WHO 淋巴瘤分类对眼附件大 B 细胞淋巴瘤 (OA-LBCL) 进行重新分类，以及 (2) 确定 MYD88 和 CD79B 突变的流行率及其与 OA-LBCL 临床参数的关联。方法 本研究是对 1980 年至 2018 年间在丹麦诊断出的所有 OA-LBCL 的回顾性分析。检索了医疗记录和组织样本。包括 34 个 OA-LBCL。荧光原位杂交和 Epstein-Barr 编码的 RNA 原位杂交用于重新分类。突变状态通过等位基因特异性 PCR 确定并通过 Sanger 测序确认。主要终点是总生存期、疾病特异性生存期（DSS）和无进展生存期（PFS）。结果 鉴定出两种 LBCL 亚型：弥漫性大 B 细胞淋巴瘤 (DLBCL)（32 例中的 27 例；84%）和具有 MYC 和 BCL2 和/或 BCL6 重排的高级 B 细胞淋巴瘤 (HGBL)（32 例中有 5 例；16%）。cMYC/BCL2 双表达 DLBCL 的 DSS 比非双表达 DLBCL 差（5 年 DSS，25% 对 78%）（HR 0.23；95% CI 0.06 至 0.85；p=0.014）。MYD88 突变存在于 34 例淋巴瘤中的 10 例 (29%) 中，并且 PFS 低于野生型病例（5 年 PFS，0% 对 43%）（HR 0.78；95% CI 0.61 至 0.98；p=0.039） . 34 例病例中有 3 例 (9%) 存在 CD79B 突变。结论 OA-LBCL主要由两种亚型组成：DLBCL和HGBL，伴有MYC和BCL2和/或BCL6重排。MYD88 突变是 OA-LBCL 的重要驱动因素。MYD88 突变以及 cMYC/BCL2 双表达 DLBCL 似乎与不良预后相关。在常规诊断中实施 MYD88 突变分析可能会改善 OA-LBCL 的预后。可根据合理要求提供数据。数据可应作者要求提供。