J Retin.  2023 May;8(1):1-5. 10.21561/jor.2023.8.1.1.

Mutational Profile of Vitreoretinal Lymphoma

• Lee CS

• KMID: 2552107
• DOI: http://doi.org/10.21561/jor.2023.8.1.1

Abstract

Lymphomas are a heterogeneous group of malignancies with complex classification. Recent advances in the understanding of pathogenesis and clinical course of lymphomas were achieved through gene expression profiling studies, which changed the classification of lymphomas. Mutational profiling is especially useful in vitreoretinal lymphoma, which can masquerade as non-specific intraocular inflammation and present technical difficulties in cytological diagnosis. Primary vitreoretinal lymphoma is a subset of primary central nervous system lymphoma and mostly diffuse large B-cell lymphoma (DLBCL). Vitreoretinal DLBCL is characterized by a high frequency of MYD88 mutation among DLBCLs, which may be attributed to ocular immune privilege. The major hot-spot mutation is MYD88 ^L265P , which is detected in 69-87% of vitreoretinal lymphoma vitreous specimen. CD79B, CDKN2A, PIM1, IGLL5, BTG1, BTG2, TBL1XR1, and PTEN are other frequently reported altered genes in vitreoretinal lymphoma. Further genetic studies will advance the understanding and management of vitreoretinal lymphomas.

Keyword

CNS lymphoma; Diffuse large B cell lymphoma; Gene expression profiling; MYD88; Intraocular lymphoma