Molecular diagnosis of vitreoretinal lymphoma

Vitreoretinal lymphoma (VRL) is a rare ocular malignancy that involves the retina, the retinal pigment epithelium, and the vitreous. It is a subtype of primary central nervous system lymphoma (CNSL). Most cases of VRL and CNSL are classified as diffuse large B-cell lymphoma. Despite its indolent nat...

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Main Authors: Jay Jiyong Kwak, Christopher Seungkyu Lee
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2025-04-01
Series:Taiwan Journal of Ophthalmology
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Online Access:https://journals.lww.com/10.4103/tjo.TJO-D-24-00052
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author Jay Jiyong Kwak
Christopher Seungkyu Lee
author_facet Jay Jiyong Kwak
Christopher Seungkyu Lee
author_sort Jay Jiyong Kwak
collection DOAJ
description Vitreoretinal lymphoma (VRL) is a rare ocular malignancy that involves the retina, the retinal pigment epithelium, and the vitreous. It is a subtype of primary central nervous system lymphoma (CNSL). Most cases of VRL and CNSL are classified as diffuse large B-cell lymphoma. Despite its indolent nature, VRL can lead to permanent vision loss and even death due to CNS involvement. The gold standard for diagnosing VRL is the identification of lymphoma cells in a vitreous biopsy. However, diagnosis is challenging due to the rarity and fragility of lymphoma cells. Consequently, various diagnostic methods, such as interleukin level measurement, immunoglobulin clonality assays, flow cytometry, and molecular analysis have been developed to improve diagnostic accuracy. Tools from molecular biology, such as next-generation sequencing and single-cell based analyses, are being investigated as emerging diagnostic modalities. This review aims to discuss the conventional and up-to-date molecular tools for VRL diagnosis and to present important genetic variations and their clinical implications in VRL.
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spelling doaj-art-0c0e685041c14a1d9533145f9e2d667d2025-08-20T02:44:09ZengWolters Kluwer Medknow PublicationsTaiwan Journal of Ophthalmology2211-50562211-50722025-04-0115223624410.4103/tjo.TJO-D-24-00052Molecular diagnosis of vitreoretinal lymphomaJay Jiyong KwakChristopher Seungkyu LeeVitreoretinal lymphoma (VRL) is a rare ocular malignancy that involves the retina, the retinal pigment epithelium, and the vitreous. It is a subtype of primary central nervous system lymphoma (CNSL). Most cases of VRL and CNSL are classified as diffuse large B-cell lymphoma. Despite its indolent nature, VRL can lead to permanent vision loss and even death due to CNS involvement. The gold standard for diagnosing VRL is the identification of lymphoma cells in a vitreous biopsy. However, diagnosis is challenging due to the rarity and fragility of lymphoma cells. Consequently, various diagnostic methods, such as interleukin level measurement, immunoglobulin clonality assays, flow cytometry, and molecular analysis have been developed to improve diagnostic accuracy. Tools from molecular biology, such as next-generation sequencing and single-cell based analyses, are being investigated as emerging diagnostic modalities. This review aims to discuss the conventional and up-to-date molecular tools for VRL diagnosis and to present important genetic variations and their clinical implications in VRL.https://journals.lww.com/10.4103/tjo.TJO-D-24-00052genetic profilemolecular diagnosisvitreoretinal lymphoma
spellingShingle Jay Jiyong Kwak
Christopher Seungkyu Lee
Molecular diagnosis of vitreoretinal lymphoma
Taiwan Journal of Ophthalmology
genetic profile
molecular diagnosis
vitreoretinal lymphoma
title Molecular diagnosis of vitreoretinal lymphoma
title_full Molecular diagnosis of vitreoretinal lymphoma
title_fullStr Molecular diagnosis of vitreoretinal lymphoma
title_full_unstemmed Molecular diagnosis of vitreoretinal lymphoma
title_short Molecular diagnosis of vitreoretinal lymphoma
title_sort molecular diagnosis of vitreoretinal lymphoma
topic genetic profile
molecular diagnosis
vitreoretinal lymphoma
url https://journals.lww.com/10.4103/tjo.TJO-D-24-00052
work_keys_str_mv AT jayjiyongkwak moleculardiagnosisofvitreoretinallymphoma
AT christopherseungkyulee moleculardiagnosisofvitreoretinallymphoma