Diagnostic Yield of Vitreous Biopsy and MYD88 Mutation Analysis in Vitreoretinal Lymphoma: A Retrospective Cohort Study.
- 1Department of Ophthalmology, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.
- 2Moorfields Eye Hospital, NHS Foundation Trust, London, UK.
Abstract
Introduction
The aim of this study was to characterize the clinical, imaging, diagnostic, and treatment features of vitreoretinal lymphoma (VRL) in a tertiary referral center.Methods
Retrospective review of patients with VRL managed at Inselspital, Bern University Hospital, between February 2022 and February 2026. Demographic, clinical, multimodal imaging, biopsy, MYD88 mutation, treatment, and survival data were analyzed.Results
Seventeen eyes from 9 patients were included (median age 70 years): ten eyes with biopsy-confirmed VRL without concurrent CNS lymphoma, and seven eyes with ocular involvement in the context of confirmed CNS lymphoma, including two eyes where ocular diagnosis relied on clinical and imaging findings alone. Mean symptom-to-diagnosis interval was 41 weeks (range 1-104 weeks). At presentation, vitreous cells were present in 94.1% and anterior chamber cells in 29.4%. Posterior segment findings included inner/outer retinal disruption (47.1%), retinal infiltration (29.4%), intraretinal hyperreflective foci (52.9%), irregularity of the RPE (23.5%), CME (23.5%). All patients underwent vitreous or transretinal biopsy, with 11 biopsies performed overall; 8 (72.7%) were cytology-positive. MYD88 mutations were detected in 80% of tested cases (8/10). All cases were reviewed in a multidisciplinary tumor board. VRL without concurrent CNS involvement was mainly treated with local radiotherapy, whereas cases associated with extraocular involvement predominantly received combined systemic immunochemotherapy and radiotherapy. Mean follow-up was 18 months, with no deaths recorded during follow-up.Conclusion
VRL remains a diagnostic challenge due to heterogeneous and nonspecific presentation often leading to a delayed diagnosis. Multimodal imaging, vitreous biopsy, and MYD88 analysis are essential, with MYD88 providing key support in cytology-negative cases. Multidisciplinary management optimizes outcomes.
Related
- Clinical Features of Vitreoretinal Lymphoma Recurrences
- Effectiveness and safety of treatments for new-onset, refractory and relapsed vitreoretinal lymphoma: protocol for a systematic review and network meta-analysis.
- Vitreoretinal Lymphoma: From Pathobiology to Integrated Diagnosis
- Therapy-related T-lymphoblastic lymphoma following acute myeloid leukemia remission with IDH2 mutation persistence
- Coexistence of Clonally Unrelated Acute Myeloid Leukemia Harboring CBFB::MYH11 and Lymphoplasmacytic Lymphoma Harboring MYD88 L252P Mutation
BibTeX
@article{agliati2026diagnostic,
title = {{Diagnostic Yield of Vitreous Biopsy and MYD88 Mutation Analysis in Vitreoretinal Lymphoma: A Retrospective Cohort Study.}},
author = {Lia Agliati and Lorenzo Ferro Desideri and Rodrigo Anguita and Enrico Bernardi and Martin S Zinkernagel and Florian M Heussen},
journal = {Ocular oncology and pathology},
year = {2026},
month = aug,
doi = {10.1159/oop/aeaag001},
url = {https://europepmc.org/article/MED/42909901},
note = {CC BY-NC},
}
RIS
TY - JOUR
TI - Diagnostic Yield of Vitreous Biopsy and MYD88 Mutation Analysis in Vitreoretinal Lymphoma: A Retrospective Cohort Study.
AU - Lia Agliati
AU - Lorenzo Ferro Desideri
AU - Rodrigo Anguita
AU - Enrico Bernardi
AU - Martin S Zinkernagel
AU - Florian M Heussen
PY - 2026
DA - 2026/08/18
JO - Ocular oncology and pathology
DO - 10.1159/oop/aeaag001
UR - https://europepmc.org/article/MED/42909901
AB - Introduction The aim of this study was to characterize the clinical, imaging, diagnostic, and treatment features of vitreoretinal lymphoma (VRL) in a tertiary referral center.Methods Retrospective review of patients with VRL managed at Inselspital, Bern University Hospital, between February 2022 and February 2026. Demographic, clinical, multimodal imaging, biopsy, MYD88 mutation, treatment, and survival data were analyzed.Results Seventeen eyes from 9 patients were included (median age 70 years): ten eyes with biopsy-confirmed VRL without concurrent CNS lymphoma, and seven eyes with ocular involvement in the context of confirmed CNS lymphoma, including two eyes where ocular diagnosis relied on clinical and imaging findings alone. Mean symptom-to-diagnosis interval was 41 weeks (range 1-104 weeks). At presentation, vitreous cells were present in 94.1% and anterior chamber cells in 29.4%. Posterior segment findings included inner/outer retinal disruption (47.1%), retinal infiltration (29.4%), intraretinal hyperreflective foci (52.9%), irregularity of the RPE (23.5%), CME (23.5%). All patients underwent vitreous or transretinal biopsy, with 11 biopsies performed overall; 8 (72.7%) were cytology-positive. MYD88 mutations were detected in 80% of tested cases (8/10). All cases were reviewed in a multidisciplinary tumor board. VRL without concurrent CNS involvement was mainly treated with local radiotherapy, whereas cases associated with extraocular involvement predominantly received combined systemic immunochemotherapy and radiotherapy. Mean follow-up was 18 months, with no deaths recorded during follow-up.Conclusion VRL remains a diagnostic challenge due to heterogeneous and nonspecific presentation often leading to a delayed diagnosis. Multimodal imaging, vitreous biopsy, and MYD88 analysis are essential, with MYD88 providing key support in cytology-negative cases. Multidisciplinary management optimizes outcomes.
SN - 2296-4681
SN - 2296-4657
ER -