Clinical Relevance of the High Prevalence of MYD88 L265P Mutated Vitreoretinal Lymphoma Identified by Droplet Digital Polymerase Chain Reaction
Clinical Relevance of the High Prevalence of MYD88 L265P Mutated Vitreoretinal Lymphoma Identified by Droplet Digital Polymerase Chain Reaction
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DOI：
10.1080/09273948.2019.1657903
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发表时间：
2019-10-13
影响因子：
3.3
通讯作者：
Wang, Qingping
中科院分区：
文献类型：
--
作者：
Shi, Huimin;Zhou, Xian;Wang, Qingping
目的：应用Droplet数字聚合酶链式反应(DdPCR)技术检测中国人玻璃体视网膜淋巴瘤(VRL)患者玻璃体中髓系分化因子88基因(MYD88 L265P)265位亮氨酸变为脯氨酸的错义突变频率及其临床意义。方法：收集北华山医院20例(29眼)VRL患者的玻璃体积液。MYD88 L265P基因分型。临床病理特征与MYD88突变之间的关系采用t检验或Fisher-S精确检验进行分析。结果：在14例弥漫性大B细胞淋巴瘤和1例淋巴浆细胞样淋巴瘤的29例标本中，22例检测到MyD88 L265P突变。然而，未发现MYD88 L265P突变状态与年龄、性别、淋巴瘤亚型或原发病变部位有显著相关性。结论：ddPCR检测MYD88 L265P基因频率较高，提示该方法可用于VRL的准确诊断。
Purpose: To investigate the frequency and clinical relevance of missense mutation at position 265 changing leucine to proline in the myeloid differentiation factor 88 gene (MYD88 L265P) in the vitreous of Chinese patients with vitreoretinal lymphoma (VRL) using droplet digital polymerase chain reaction (ddPCR). Methods: Vitreous fluid (VF) from 29 eyes of 20 VRL patients at the North Huashan Hospital were included. MYD88 L265P analysis of VF was performed using ddPCR. Associations between clinicopathologic characteristics and MYD88 mutation were analyzed using t-test or Fisher?s exact test. Results: MYD88 L265P mutations were detected in 22 of 29 samples from 14 patients with diffuse large B-cell lymphomas and one patient with lymphoplasmacytoid lymphoma. However, no significant associations were found between MYD88 L265P mutation status and age, sex, lymphoma subtype or location of the primary lesion. Conclusion: The high prevalence of MYD88 L265P identified by ddPCR suggests that this method of evaluating the frequency of MYD88 L265P is a promising tool for accurate diagnosis of VRL.