Abstract
Purpose :
Published diagnostic sensitivity of cytology, the gold standard in vitreoretinal lymphoma (VRL) diagnosis varies greatly from 45-87% and is dependent on the cytologist’s experience. This study aims to determine the diagnostic accuracy of single cell MYD88L265P mutation and Immunoglobulin (Ig) H gene rearrangement analysis in comparison to specialised cytology with the purpose of improving VRL diagnosis rates.
Methods :
This study was performed with informed consent and institutional review board approval. A total of 12 patients with clinically proven VRL and 7 patients with chronic inflammatory vitritis were recruited. Vitreous cytology was analysed by experienced ophthalmic and lymphoma pathologists. Single cell (sc)-MYD88L265P and sc-IgH rearrangement analysis was performed using DEPArray™ Nxt single cell selection, followed by Whole Genome Amplification (WGA) and specific targeted sc-PCR. Measures of diagnostic accuracy included sensitivity and specificity using receiver operating characteristic (ROC) curve analysis.
Results :
In our lab, cytology analysis by experienced ophthalmic pathologists and hematopathologist had a higher diagnostic sensitivity (88.9%) than most published diagnostic rates, however, specificity was only 66.7% for diagnosing VRL. Using a cut-off of >2.3% homozygous MYD88L265P to define the presence of a MYD88L265P mutation, this test was more sensitive (100%) and specific (83.3%) test than cytology. However Sc-IgH gene re-arrangement analysis was the most sensitive (100%) and specific (100%) test for VRL diagnosis when a cut off > 74% was used to define a dominant clone.
Conclusions :
Although vitreous cytology remains highly sensitive for VRL diagnosis when analysed by experienced ophthalmic and lymphoma pathologists, the use of sc-MYD88L265P mutation and/ or sc-IgH gene rearrangement analysis can improve the sensitivity and specificity of VRL diagnosis.
This abstract was presented at the 2022 ARVO Annual Meeting, held in Denver, CO, May 1-4, 2022, and virtually.