High frequency of MYD88 mutations in vitreoretinal B-cell lymphoma: a valuable tool to improve diagnostic yield of vitreous aspirates
High frequency of MYD88 mutations in vitreoretinal B-cell lymphoma: a valuable tool to improve diagnostic yield of vitreous aspirates
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DOI：
10.1182/blood-2015-01-620518
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发表时间：
2015-07-02
期刊：
影响因子：
20.3
通讯作者：
Fend, Falko
中科院分区：
文献类型：
--
作者：
Bonzheim, Irina;Giese, Sabrina;Fend, Falko
玻璃体视网膜弥漫性大B细胞淋巴瘤是一种罕见的疾病，发生在原发性眼部疾病或继发于原发性中枢神经系统淋巴瘤。它通常通过玻璃体吸出物的细胞学、免疫细胞化学和分子学检查来诊断。然而，区分玻璃体视网膜弥漫性大B细胞淋巴瘤与葡萄膜炎仍然很困难，克隆性分析可能是不成功的或误导。发生在免疫豁免部位（如中枢神经系统）的弥漫性大B细胞淋巴瘤显示出高频率的MYD 88突变。因此，我们回顾性评估了69例患者的75份玻璃体切除术样本中MYD 88突变在玻璃体视网膜淋巴瘤（VRL）中的频率及其诊断潜力，并在一个单独的队列（n = 21）中验证了我们的结果。在29例临床、组织学和分子学证实的VRL中的20例（69%）中鉴定出MYD 88突变，包括最初诊断为淋巴瘤反应性（3/6）或可疑（3/6）的6例试验队列病例。MYD 88突变，尤其是L265 P，在VRL中非常常见，它们的检测显著提高了玻璃体切除术标本的诊断率。
Vitreoretinal diffuse large B-cell lymphoma is a rare disorder, occurring as primary ocular disease or as secondary involvement by primary central nervous system lymphoma. It is usually diagnosed by cytologic, immunocytochemical, and molecular examination of vitreous aspirates. However, distinguishing vitreoretinal diffuse large B-cell lymphoma from uveitis remains difficult, and clonality analysis may be either unsuccessful or misleading. Diffuse large B-cell lymphoma arising in immune-privileged sites (eg, the central nervous system) shows a high frequency of MYD88 mutations. Therefore, we retrospectively assessed the frequency of MYD88 mutations in vitreoretinal lymphoma (VRL) and their diagnostic potential in 75 vitrectomy samples of 69 patients, and validated our results in a separate cohort (n = 21). MYD88 mutations were identified in 20 of 29 (69%) clinically, histologically, and molecularly confirmed VRL, including 6 cases of the test cohort initially diagnosed as reactive (3/6) or suspicious (3/6) for lymphoma. MYD88 mutations, especially L265P, are very frequent in VRL and their detection significantly improves the diagnostic yield of vitrectomy specimens.