Clinical Relevance of the High Prevalence of MYD88 L265P Mutated Vitreoretinal Lymphoma Identified by Droplet Digital Polymerase Chain Reaction

• Published in: Ocular immunology and inflammation 2021-04, Vol.29 (3), p.448-455
• Main Authors: Shi, Huimin, Zhou, Xian, Chen, Bobin, Xiao, Jianjiang, Li, Yi, Zhou, Xianjin, Zhou, Qiang, Chen, Kun, Wang, Qingping
• Format: Article
• Language: English
• Subjects: Adult; Aged; Diagnosis; droplet digital polymerase chain reaction (ddPCR); Female; Humans; Immunohistochemistry; Intraocular Lymphoma - diagnostic imaging; Intraocular Lymphoma - genetics; Intraocular Lymphoma - pathology; Leucine - genetics; Lymphoma, Large B-Cell, Diffuse - diagnostic imaging; Lymphoma, Large B-Cell, Diffuse - genetics; Lymphoma, Large B-Cell, Diffuse - pathology; Male; Middle Aged; mutation; Mutation, Missense; myeloid differentiation factor 88 (MYDD88); Myeloid Differentiation Factor 88 - genetics; Polymerase Chain Reaction; Proline - genetics; Prospective Studies; Retinal Neoplasms - genetics; Retinal Neoplasms - pathology; Vitrectomy; vitreoretinal lymphoma (VRL); Vitreous Body - pathology; Waldenstrom Macroglobulinemia - diagnostic imaging; Waldenstrom Macroglobulinemia - genetics; Waldenstrom Macroglobulinemia - pathology
• ISSN: 0927-3948; 1744-5078
• DOI: 10.1080/09273948.2019.1657903

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.