Analysis of clonal immunoglobulin heavy chain rearrangements in ocular lymphoma

Cancer. 2005 Aug 1;104(3):591-7. doi: 10.1002/cncr.21191.


Background: The morphologic diagnosis of primary and metastatic intraocular lymphoma (IOL) was made difficult by the paucicellular specimens with fragile populations of lymphocytes retrieved through pars plana vitrectomy (PPV). The analysis of immunoglobulin heavy chain (IgH) gene rearrangements (AIGHR) was used as an adjunct to cytopathology and flow cytometry in systemic lymphoma. In IOL, the sensitivity and specificity of AIGHR are unknown.

Methods: The authors reviewed the clinical records of patients who underwent PPV for suspicion of IOL at the Immunology and Uveitis Service of the Massachusetts Eye and Ear Infirmary (Boston, MA) between 2000 and 2002. AIGHR was performed as a routine diagnostic test on cell lysates isolated from < 0.5 mL of vitreous fluid. The authors used seminested polymerase chain reaction (PCR) with consensus primers for the VDJ-region of the IgH gene. PCR products were analyzed by polyacrylamide gel electrophoresis.

Results: Thirty patients (37 specimens) with chronic vitritis and 17 patients (23 specimens) with IOL were included. The specificity of vitreous fluid cytopathology, flow cytometry, and AIGHR was 1.0, and the sensitivity values were 0.24, 0.36, and 0.64, respectively. AIGHR was negative in two patients for whom cytopathology or flow cytometry revealed the diagnosis of lymphoma. Clonal IGHR was found in four specimens classified as negative for lymphoma based on cytopathology and flow cytometry.

Conclusions: AIGHR supplemented cytopathology and flow cytometry to increase the diagnostic yield in IOL.

Publication types

  • Comparative Study

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Biomarkers, Tumor / analysis
  • Chronic Disease
  • DNA, Neoplasm / genetics
  • Diagnosis, Differential
  • Eye Neoplasms / genetics*
  • Female
  • Flow Cytometry
  • Gene Rearrangement*
  • Genes, Immunoglobulin
  • Humans
  • Immunoglobulin Heavy Chains / genetics*
  • Immunoglobulin Variable Region / genetics
  • Lymphoma, Non-Hodgkin / genetics*
  • Male
  • Middle Aged
  • Polymerase Chain Reaction
  • Retrospective Studies
  • Sensitivity and Specificity
  • Vitrectomy
  • Vitreous Body / pathology*


  • Biomarkers, Tumor
  • DNA, Neoplasm
  • Immunoglobulin Heavy Chains
  • Immunoglobulin Variable Region