Detection of Monoclonal Immunoglobulin Heavy Chain Gene Rearrangement in Fuchs' uveitis

Abstract

Purpose : Fuchs' uveitis (FU) is occasionarlly complicated with heavy vitreous opacity. We have performed vitrectomy procedures to remove vitreous opacity in affected patients as part of differential diagnosis for primary vitreoretinal lymphoma (PVRL).

Methods : We retrospectively reviewed the clinical records of 5 patients (5 eyes; 4 males, 1 female) who first visited the Uveitis Clinic of the University of Tokyo Hospital between 2009 and 2013, were diagnosed with FU and underwent a vitrectomy for removal of dense vitreous opacity. To clarify factors for differential diagnosis between FU and PVRL, we noted the results of cytology, immunohistochemistry on slide-mounted cells, IL-10/IL-6 ratio, kappa/lambda ratio by flow cytometry, and monoclonal immunoglobulin heavy chain (IgH) gene rearrangement in these cases.

Results : All were diagnosed as FU by ocular findings and elevation of Goldmann-Witmer coefficient (GWC) value for the rubella virus (RV) antibody. In examinations of the vitreous body, cytological diagnosis, elevation of IL-10/IL-6 ratio, and the kappa/lambda ratio in flow cytometry findings were negative in all cases, whereas IgH gene rearrangement was positive in 4 cases and negative in 1 case.

Conclusions : Although monoclonal IgH gene rearrangement is thought to be a reliable biomarker for PVRL, a high percentage of vitreous specimens from our FU patients showed pseudo-positive results. Ophthalmologists must take care regarding possible pseudo-positive findings when performing differential diagnosis between FU and PVRL. Combinations of results of cytological diagnosis, IL-10/IL-6 ratio, kappa/lambda ratio, and IgH gene rearrangement may be necessary for a definitive diagnosis of PVRL and differentiation from FU.

This is an abstract that was submitted for the 2018 ARVO Annual Meeting, held in Honolulu, Hawaii, April 29 - May 3, 2018.