Cytological diagnosis of vitreoretinal lymphoma (VRL) is often challenging for several reasons, including the low cellularity of vitreous fluid samples, fragility of lymphoma cells, and presence of a reactive lymphocytic infiltrate, which can mislead cytological analysis. Therefore, a diagnostic workup may include a vitreous analysis with multiparameter flow cytometry or molecular testing to establish B-cell clonality.1 Because diagnostic delay is a major prognostic factor in VRL, adjunctive diagnostic tests have been developed over the last few decades. However, such ancillary diagnostic tools, including interleukin 10 (IL-10) and IL-6 dosages2,3 and ISOLD score calculation,4 are not sufficient to state the diagnosis of VRL and are not a substitute for a cellular approach for diagnosing VRL. Because the MYD88 mutation has been described in a high proportion of primary VRL cases,3 its detection could be helpful in cases of high clinical suspicion of lymphoma without any cytology or clonality confirmation.
Touitou V, Costopoulos M, Maloum K. Detection of MYD88 Mutations in Vitreoretinal Lymphoma and Its Implications. JAMA Ophthalmol. Published online July 19, 2018. doi:10.1001/jamaophthalmol.2018.2894
Customize your JAMA Network experience by selecting one or more topics from the list below.