Cytologic and Molecular Diagnostics for Vitreoretinal Lymphoma: Current Approaches and Emerging Single-Cell Analyses.

Wei Jian Tan,Paola Ricciardi-Castagnoli,Mona Meng Wang,Tong Seng Lim,Anita Sook Yee Chan

doi:10.3389/fmolb.2020.611017

Abstract

Vitreoretinal lymphoma (VRL) is a rare ocular malignancy that manifests as diffuse large B-cell lymphoma. Early and accurate diagnosis is essential to prevent mistreatment and to reduce the high morbidity and mortality associated with VRL. The disease can be diagnosed using various methods, including cytology, immunohistochemistry, cytokine analysis, flow cytometry, and molecular analysis of bulk vitreous aspirates. Despite these options, VRL diagnosis remains challenging, as samples are often confounded by low cellularity, the presence of debris and non-target immunoreactive cells, and poor cytological preservation. As such, VRL diagnostic accuracy is limited by both false-positive and false-negative outcomes. Missed or inappropriate diagnosis may cause delays in treatment, which can have life-threatening consequences for patients with VRL. In this review, we summarize current knowledge and the diagnostic modalities used for VRL diagnosis. We also highlight several emerging molecular techniques, including high-resolution single cell-based analyses, which may enable more comprehensive and precise VRL diagnoses.

Highlights

Primary vitreoretinal lymphoma (PVRL), previously known as primary intraocular lymphoma or ocular reticulum cell sarcoma, was originally described by Cooper and Riker (1951) in 1951
Making a prompt and accurate Vitreoretinal lymphoma (VRL) diagnosis is essential, as 65–90% of affected patients eventually progress to primary central nervous system lymphoma (PCNSL), an aggressive lymphoma that confers a high mortality rate (Chan et al, 2011; Ponzoni, 2015)
The VRL indication for each method varies for different sample types, and the diagnostic performance depends on the sample quality as well as the availability of specialized laboratory equipment (Supplementary Table 1)

Summary

Introduction

Primary vitreoretinal lymphoma (PVRL), previously known as primary intraocular lymphoma or ocular reticulum cell sarcoma, was originally described by Cooper and Riker (1951) in 1951. A study by Wang et al (2011) found no identifiable cells in 23/182 (12%) of collected samples, preventing the use of cytologic analyses to make a VRL diagnosis in these cases.

Results

Conclusion