June 2022
Volume 63, Issue 7
Open Access
ARVO Annual Meeting Abstract  |   June 2022
Single cell MYD88L265P mutation and IgH gene rearrangement analysis is more sensitive and specific compared to cytology for vitreoretinal lymphoma diagnosis.
Author Affiliations & Notes
  • Anita Chan
    Singapore National Eye Centre Ocular Inflammation and Immunology Department, Singapore, Singapore
    Translational Ophthalmic Pathology Platform, Singapore Eye Research Institute, Singapore, Singapore
  • Meng Wang
    Singapore National Eye Centre Ocular Inflammation and Immunology Department, Singapore, Singapore
  • Meihui Wu
    Singapore National Eye Centre Ocular Inflammation and Immunology Department, Singapore, Singapore
  • Tong Seng Lim
    Singapore National Eye Centre Ocular Inflammation and Immunology Department, Singapore, Singapore
    Menarini biomarkers Singapore Pte Lted, Singapore
  • Nagavalli DO Somasundaram
    National Cancer Center Singapore, Singapore
  • Footnotes
    Commercial Relationships   Anita Chan Menarini Biomarkers Singapore Pte Ltd, Code F (Financial Support); Meng Wang Menarini Biomarkers Singapore pte ltd, Code F (Financial Support); Meihui Wu None; Tong Seng Lim Menarini Biomarkers Pte Ltd, Code E (Employment); Nagavalli DO Somasundaram None
  • Footnotes
    Support  SERI LEE Pilot Grant R1755/78/2020; NMRC CS-IRG R1749/72/2020;
Investigative Ophthalmology & Visual Science June 2022, Vol.63, 3573 – A0002. doi:
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      Anita Chan, Meng Wang, Meihui Wu, Tong Seng Lim, Nagavalli DO Somasundaram; Single cell MYD88L265P mutation and IgH gene rearrangement analysis is more sensitive and specific compared to cytology for vitreoretinal lymphoma diagnosis.. Invest. Ophthalmol. Vis. Sci. 2022;63(7):3573 – A0002.

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      © ARVO (1962-2015); The Authors (2016-present)

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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.

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