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Inflammation
Deep sequencing as a diagnostic tool in patients with suspected primary vitreoretinal lymphoma
  1. Charlene Choo1,
  2. Olivia Cote2,
  3. Karina Bostwick3,
  4. Matthew Regueiro4,
  5. Jill Wells3,
  6. Hans E Grossniklaus3,
  7. John Gonzales1,5,
  8. Steven Yeh6,
  9. Armin Hinterwirth1,
  10. Thuy Doan1,5,
  11. Jessica G Shantha1,5
  1. 1Francis I Proctor Foundation, San Francisco, California, USA
  2. 2Emory University School of Medicine, Atlanta, Georgia, USA
  3. 3Emory Eye Center, Atlanta, Georgia, USA
  4. 4Cleveland Clinic Cole Eye Institute, Cleveland, Ohio, USA
  5. 5Department of Ophthalmology, University of California San Francisco, San Francisco, California, USA
  6. 6Department of Ophthalmology and Visual Sciences, Truhlsen Eye Institute, University of Nebraska Medical Center, Omaha, Nebraska, USA
  1. Correspondence to Dr Jessica G Shantha; jessica.shantha{at}ucsf.edu

Abstract

Purpose To compare the diagnostic utility of metagenomic deep sequencing (MDS) to cytology, flow cytometry and gene rearrangement by PCR in ocular samples of patients with suspected vitreoretinal lymphoma (VRL).

Methods Patients with suspected VRL underwent ocular sampling of one or both eyes at the Emory Eye Center from September 2017 to June 2022. Ocular samples were evaluated with MDS and conventional diagnostics. MDS was performed at the Ralph and Sophie Heintz Laboratory at the F.I. Proctor Foundation. Relevant demographic and clinical data were retrospectively collected from medical records. Patients were diagnosed with VRL based on clinical assessment and conventional diagnostic testing.

Results This study included 13 patients with suspected VRL who underwent diagnostic vitrectomy, including 1 patient who had an additional subretinal biopsy. Six patients (46.2%) were diagnosed with VRL. Among patients diagnosed with VRL, MDS detected pathogenic mutations in 5 out of 6 patients (83.3%) while cytology was positive for VRL in 4 out of 6 patients (66.7%), flow cytometry in 4 out of 4 patients (100.0%) and PCR in 4 out of 4 patients (100.0%). MDS detected mutations in MYD88 in 2 out of 6 patients diagnosed with VRL. In 7 patients (53.8%) not diagnosed with VRL, MDS detected pathogenic lymphoma mutations in 2 patients (28.6%).

Discussion MDS detected pathogenic mutations in five out of six patients diagnosed with VRL, including in two patients with negative cytology, demonstrating its potential to improve diagnostic rates of VRL as an adjunctive test.

  • Diagnostic tests/Investigation
  • Inflammation
  • Neoplasia
  • Genetics
  • Ophthalmologic Surgical Procedures

Data availability statement

No data are available.

https://doi.org/10.1136/bjo-2023-324769

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    Data availability statement

    No data are available.

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    Footnotes

    • Presented at Findings were presented at ARVO 2023, New Orleans, LA.

    • Contributors SY, JGS, TD, HEG, JGS and JW conceived the original idea and supervised the project. OC, KB and MR collected data from electronic medical records. CC cleaned and analysed the clinical data. TD and AH created the in-house pipeline for pathogenic mutations associated with vitreoretinal lymphoma and analysed the sequencing results. CC wrote the manuscript with support from JGS, TD and SY. A. JGS is guarantor.

    • Funding This work is supported by National Eye Institute/ National Institutes of Health K23 EY030158 (Shantha), Research to Prevent Blindness Career Development Award (Doan), and NIH P30EY06360 (core grant). This research was supported, in part, by the UCSF Vision Core shared resource of the NIH/NEI P30 EY002162, and by an unrestricted grant from Research to Prevent Blindness, New York, NY.

    • Disclaimer Consultant/advisory board for Alcon, Bausch and Lomb, RegenxBio, and Apellis (Yeh).

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer reviewed.

    • Supplemental material This content has been supplied by the author(s). It has not been vetted by BMJ Publishing Group Limited (BMJ) and may not have been peer-reviewed. Any opinions or recommendations discussed are solely those of the author(s) and are not endorsed by BMJ. BMJ disclaims all liability and responsibility arising from any reliance placed on the content. Where the content includes any translated material, BMJ does not warrant the accuracy and reliability of the translations (including but not limited to local regulations, clinical guidelines, terminology, drug names and drug dosages), and is not responsible for any error and/or omissions arising from translation and adaptation or otherwise.