Molecular Characterization of a Rare Case of Bilateral Vitreoretinal T Cell Lymphoma through Vitreous Liquid Biopsy
Year: 2021
Type: article
Study design: Case Report
Abstract: Vitreoretinal lymphoma (VRL) is an uncommon eye malignancy, and VRLs of T cell origin are rare. They are difficult to treat, and their molecular underpinnings, including actionable genomic alterations, remain to be elucidated. At present, vitreous fluid liquid biopsies represent a valuable VRL sample for molecular analysis to study VRLs. In this study, we report the molecular diagnostic workup of a rare case of bilateral T cell VRL and characterize its genomic landscape, including identification of potentially targetable alterations. Using next-generation sequencing of vitreous-derived DNA with a pan-cancer 126-gene panel, we found a copy number gain of BRAF and copy number loss of tumor suppressor DNMT3A. To the best of our knowledge, this represents the first exploration of the T cell VRL cancer genome and supports vitreous liquid biopsy as a suitable approach for precision oncology treatments.
DOI: 10.3390/ijms22116099
Language: English
Subfield: Ophthalmology
Field: Medicine
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $2,160
Awards: G1411628592, Proteomic Biomarkers of Intraocular Infection, Training Program in Translational Research, Improving rigor and reproducibility in adaptive optics ophthalmoscopy, Epigenetic Control of Retinal Development, Inflammatory Gene Transcription in the Retina, Medical Scientist Training Program, Molecular Determinants for WDR5-Driven Transcriptional Regulation at Lineage-Specifying Genes During Retinogenesis, University of Michigan Rogel Cancer Center Support Grant 2023-2028, Stanford Vision Research Core, Michigan Vision Clinician Scientist Development Program
OpenAlex ID: W3166499962