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Invited Commentary
October 2018

Detection of MYD88 Mutations in Vitreoretinal Lymphoma and Its Implications

Author Affiliations
  • 1Department of Ophthalmology, Pitie Salpetriere Hospital, Paris, France
  • 2Sorbonne Universities, Paris, France
  • 3Department of Biological Haematology, Pitie Salpetriere Hospital, Paris, France
  • 4INSERM U1138, Programmed Cell Death and Physiopathology of Tumor Cells, Team 19, Centre de Recherche des Cordeliers, Paris, France
JAMA Ophthalmol. 2018;136(10):1104-1105. doi:10.1001/jamaophthalmol.2018.2894

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.

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