Primary T-cell Lymphoma of the Retina and Cerebellum: Immunophenotypic and Gene Rearrangement Confirmation

PURPOSE: To document fully the first credible primary T cell lymphoma of the retina and central nervous system in a 71 year,old man. DESIGN: Interventional, retrospective report. METHODS: Critical analysis of clinical history and findings, which included bilateral vitreitis with anterior chamber reaction, creamy intraretinal infiltrates, and retinal detachment; complete blood counts and other blood studies (anti-neutrophil cytoplasmic antibody [ANCA], angiotensin-converting enzyme levels, and Lyme and fluorescent treponemal antibody absorption titers); magnetic resonance imaging (MRI) scanning of the brain with total body computed tomographic and positron emission tomographic scanning; interleukin (IL) level determinations (IL-10 and IL-6); cytologic and electron microscopic evaluations; immunophenotyping of cells; and polymerase chain reaction studies for viral deoxyribonucleic acid and ribonucleic acid, and immunoglobulin heavy-chain, and T-cell receptor (TCR) gene rearrangements. RESULTS: The first vitreous specimen was diagnosed mistakenly as cytologically reactive and contained elevated levels of IL-10 and IL,6 in a ratio of 7 to 1. T cells predominated on immunophenotypic analysis. Computed tomographic and positron emission tomographic whole body scanning showed negative results for lymphoma. An MRI scan of the brain eventually revealed a cerebellar lesion. A retinal biopsy harbored cytologically atypical pleomorphic cells that were almost all immunophenotypically T cells; polymerase chain reaction studies demonstrated a clonal TCR gene rearrangement. T-cell lymphocytes in the biopsy specimen of the cerebellum had an identical clonal TCR gene rearrangement. CONCLUSIONS: This case unequivocally establishes that primary retinal T,cell lymphoma accompanied by central nervous system involvement can occur. Elevation in the IL-10 to IL-6 ratio in the face of inconclusive or confusing vitreous cytologic and immunophenotypic findings (a predominance of "reactive T cells with some atypicality") should lead to gene rearrangement studies on biopsies of involved tissues for the detection of T-cell clonality. (Am J Ophthalmol 2009;148:350-360. (C) 2009 by Elsevier Inc. All rights reserved.)