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Molecular Characterization of a Rare Case of Bilateral Vitreoretinal T Cell Lymphoma through Vitreous Liquid Biopsy. International journal of molecular sciences Cani, A. K., Toral, M. A., Balikov, D. A., Betz, B. L., Hu, K., Liu, C. J., Prifti, M. V., Chinnaiyan, A. M., Tomlins, S. A., Mahajan, V. B., Rao, R. C. 2021; 22 (11)

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.

View details for DOI 10.3390/ijms22116099

View details for PubMedID 34198843

View details for PubMedCentralID PMC8201094