Vitreoretinal Involvement by Indolent T-cell Lymphoproliferative Disorder of the Gastrointestinal Tract Diagnosed by Fluorescence In Situ Hybridization.

Abstract

To describe an exceedingly rare presentation of secondary vitreoretinal involvement by the uncommon entity "indolent T-cell lymphoproliferative disorder of the gastrointestinal tract" and illustrate the utility of fluorescence in situ hybridization for diagnosis. Case report. 57-year-old female. A 57-year-old female with presumed iritis on chronic topical prednisolone acetate presented with increased vitreous opacities in the right eye. She had a history of biopsy-confirmed indolent T-cell lymphoproliferative disorder (iTLPD-GI) involving the stomach and duodenum, JAK2-rearrangment-positive, controlled on maintenance oral methotrexate. Vitreous biopsy was unremarkable with small CD3 and CD4-positive, CD-20 negative lymphocytes, along with histiocytes and fibroblasts. Immunostains showed CD4 positivity, and fluorescence in situ hybridization revealed a JAK2 gene rearrangement, consistent with the patient's previously diagnosed iTLPD-GI. Intravitreal methotrexate injections were started in the right eye. Brain MRI and lumbar puncture with cytology, MYD88, IL10, and flow cytometry performed at the time of right eye vitreoretinal lymphoma diagnosis revealed no evidence of central nervous system lymphoma, but subsequent bone marrow biopsy demonstrated 5% involvement by iTLPD-GI, JAK2-rearrangment-positive, with a lung nodule on PET-CT. She returned four months later with fatigue, night sweats, and blurry vision in the left eye with vitreous and anterior chamber cellular infiltration and retinal vasculitis. T-cell vitreoretinal lymphoma is rare, and diagnosis can be challenging. Despite inconclusive cytology in this case, interphase fluorescence in situ hybridization detected a JAK2 gene rearrangement, which confirmed involvement by iTLPD-GI and prompted appropriate treatment and workup for recurrent systemic or central nervous system lymphoma.