Primary T-cell lymphoma of the retina and cerebellum: immunophenotypic and gene rearrangement confirmation.
OBJECTIVE
To document fully the first credible primary T-cell lymphoma of the retina and central nervous system in a 71-year-old man.


METHODS
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.
Bhat
Pooja V
PV
David G. Cogan Laboratory of Ophthalmic Pathology, Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts 02114, USA.
Jakobiec
Frederick A
FA
Papaliodis
George
G
Sobrin
Lucia
L
D000368:Aged; D014408:Biomarkers, Tumor / Q000032:analysis; D002528:Cerebellar Neoplasms / Q000737:chemistry / Q000235:genetics / Q000276:immunology / Q000473:pathology*; D002555:Cerebrospinal Fluid / Q000166:cytology / Q000276:immunology; D004797:Enzyme-Linked Immunosorbent Assay; D017809:Fatal Outcome; D015329:Gene Rearrangement, T-Lymphocyte / Q000235:genetics*; D006801:Humans; D007143:Immunoglobulin Heavy Chains / Q000235:genetics; D016130:Immunophenotyping; D016753:Interleukin-10 / Q000097:blood; D015850:Interleukin-6 / Q000097:blood; D016399:Lymphoma, T-Cell / Q000737:chemistry / Q000235:genetics / Q000276:immunology / Q000473:pathology*; D008279:Magnetic Resonance Imaging; D008297:Male; D016133:Polymerase Chain Reaction; D011948:Receptors, Antigen, T-Cell / Q000235:genetics*; D019572:Retinal Neoplasms / Q000737:chemistry / Q000235:genetics / Q000276:immunology / Q000473:pathology*; D012189:Retrospective Studies; D013601:T-Lymphocytes / Q000276:immunology*; D014057:Tomography, X-Ray Computed; D014822:Vitreous Body / Q000276:immunology / Q000473:pathology
D014408:Biomarkers, Tumor; D007143:Immunoglobulin Heavy Chains; D015850:Interleukin-6; D011948:Receptors, Antigen, T-Cell; D016753:Interleukin-10