Diagnostic Utility of Peripheral Blood MYD88 L265P Testing in Vitreoretinal Lymphoma.
6 affiliations
- 1Kellogg Eye Center, Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, MI 48105, USA.
- 2Department of Ophthalmology, Baskent University, Ankara 06490, Turkey.
- 3Department of Ophthalmology, Marmara University, Istanbul 34899, Turkey.
- 4Kellogg Eye Center, Department of Pathology, University of Michigan, Ann Arbor, MI 48105, USA.
- 5Department of Human Genetics, School of Public Health, University of Pittsburgh, Pittsburgh, PA 15261, USA.
- 6Department of Pathology and Clinical Labs, University of Michigan, Ann Arbor, MI 48105, USA.
Abstract
Background/objectives
Vitreoretinal lymphoma (VRL) is a rare form of non-Hodgkin lymphoma. Molecular analysis of MYD88 mutations in intraocular fluids (aqueous or vitreous humor) has emerged as a valuable diagnostic tool in VRL. The purpose of this study was to evaluate the diagnostic utility of peripheral blood MYD88 L265P testing in VRL and its relationship with central nervous system (CNS) involvement.Methods
Patients presenting with suspected VRL between 03/2021 and 03/2024 were included. Aqueous humor samples were collected from all patients during the initial office visit. Peripheral blood samples were obtained from all patients before treatment. All patients were evaluated for the presence of the MYD88 (NM_002468.4) c.794T>C (p.L265P) mutation in their aqueous humor and peripheral blood samples by using an allele-specific, real-time polymerase chain reaction assay. VRL diagnosis was established clinically and confirmed by vitreous cytopathology. Vitreous humor was also tested for MYD88 L265P mutation when vitrectomy was done at our institution.Results
Twelve patients (eight males, four females) with VRL were included. Seven patients had CNS involvement, and four were on systemic chemotherapy at the time of sampling. Aqueous humor-derived MYD88 L265P mutation was identified in 9/12 patients (75.0%), and vitreous humor-derived MYD88 L265P mutation was identified in 8/9 patients tested (88.9%). The mutation was not identified in any of the blood samples.Conclusions
While aqueous and vitreous humor samples demonstrated high detection rates for the MYD88 L265P mutation in VRL, allele-specific real-time PCR analysis of predominantly leukocyte-derived DNA extracted from the whole blood did not detect the MYD88 L265P mutation. This finding supports the concept that VRL, including cases with CNS involvement, appears to be mainly confined to immune-privileged sites with no detectable circulating lymphoma cells for useful peripheral blood DNA analysis.
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BibTeX
@article{sezenoz2026diagnostic,
title = {{Diagnostic Utility of Peripheral Blood MYD88 L265P Testing in Vitreoretinal Lymphoma.}},
author = {Almila Sarigul Sezenoz and Aslan Aykut and Rajesh C Rao and Victor M Elner and F Yesim Demirci and Noah Brown and Hakan Demirci},
journal = {Genes},
year = {2026},
month = sep,
doi = {10.3390/genes17101172},
url = {https://europepmc.org/article/MED/42938287},
note = {CC BY},
}
RIS
TY - JOUR
TI - Diagnostic Utility of Peripheral Blood MYD88 L265P Testing in Vitreoretinal Lymphoma.
AU - Almila Sarigul Sezenoz
AU - Aslan Aykut
AU - Rajesh C Rao
AU - Victor M Elner
AU - F Yesim Demirci
AU - Noah Brown
AU - Hakan Demirci
PY - 2026
DA - 2026/09/23
JO - Genes
DO - 10.3390/genes17101172
UR - https://europepmc.org/article/MED/42938287
AB - Background/objectives Vitreoretinal lymphoma (VRL) is a rare form of non-Hodgkin lymphoma. Molecular analysis of MYD88 mutations in intraocular fluids (aqueous or vitreous humor) has emerged as a valuable diagnostic tool in VRL. The purpose of this study was to evaluate the diagnostic utility of peripheral blood MYD88 L265P testing in VRL and its relationship with central nervous system (CNS) involvement.Methods Patients presenting with suspected VRL between 03/2021 and 03/2024 were included. Aqueous humor samples were collected from all patients during the initial office visit. Peripheral blood samples were obtained from all patients before treatment. All patients were evaluated for the presence of the MYD88 (NM_002468.4) c.794T>C (p.L265P) mutation in their aqueous humor and peripheral blood samples by using an allele-specific, real-time polymerase chain reaction assay. VRL diagnosis was established clinically and confirmed by vitreous cytopathology. Vitreous humor was also tested for MYD88 L265P mutation when vitrectomy was done at our institution.Results Twelve patients (eight males, four females) with VRL were included. Seven patients had CNS involvement, and four were on systemic chemotherapy at the time of sampling. Aqueous humor-derived MYD88 L265P mutation was identified in 9/12 patients (75.0%), and vitreous humor-derived MYD88 L265P mutation was identified in 8/9 patients tested (88.9%). The mutation was not identified in any of the blood samples.Conclusions While aqueous and vitreous humor samples demonstrated high detection rates for the MYD88 L265P mutation in VRL, allele-specific real-time PCR analysis of predominantly leukocyte-derived DNA extracted from the whole blood did not detect the MYD88 L265P mutation. This finding supports the concept that VRL, including cases with CNS involvement, appears to be mainly confined to immune-privileged sites with no detectable circulating lymphoma cells for useful peripheral blood DNA analysis.
SN - 2073-4425
ER -