Department of Ophthalmology, North Huashan Hospital, Fudan University, Shanghai, China.
Department of Ophthalmology, Huashan Hospital, Fudan University, Shanghai, China.
Ocul Immunol Inflamm. 2021 Apr 3;29(3):448-455. doi: 10.1080/09273948.2019.1657903. Epub 2019 Oct 11.
: 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).: 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.: 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.: 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.
使用液滴式数字聚合酶链反应（ddPCR）检测中国眼内淋巴瘤（VRL）患者玻璃体液中髓样分化因子 88 基因（MYD88）第 265 位亮氨酸突变为脯氨酸（MYD88 L265P）的错义突变频率及其临床相关性。
纳入华山医院 20 例 29 眼 VRL 患者的玻璃体液，采用 ddPCR 检测玻璃体液中 MYD88 L265P 的情况。采用 t 检验或 Fisher 确切概率法分析 MYD88 突变与临床病理特征之间的关系。
14 例弥漫性大 B 细胞淋巴瘤和 1 例淋巴浆细胞淋巴瘤患者的 29 个样本中有 22 个样本检测到 MYD88 L265P 突变，但 MYD88 L265P 突变状态与年龄、性别、淋巴瘤亚型或原发性病变部位之间无显著相关性。
ddPCR 检测到的 MYD88 L265P 高阳性率提示，该方法可作为评估 MYD88 L265P 频率的一种有前途的工具，有助于准确诊断 VRL。
