TY - JOUR T1 - Molecular Characterization of a Rare Case of Bilateral Vitreoretinal T Cell Lymphoma through Vitreous Liquid Biopsy. JF - Int J Mol Sci Y1 - 2021 A1 - Cani, Andi K A1 - Toral, Marcus A A1 - Balikov, Daniel A A1 - Betz, Bryan L A1 - Hu, Kevin A1 - Liu, Chia-Jen A1 - Prifti, Matthew V A1 - Chinnaiyan, Arul M A1 - Tomlins, Scott A A1 - Mahajan, Vinit B A1 - Rao, Rajesh C KW - Biomarkers, Tumor KW - DNA (Cytosine-5-)-Methyltransferases KW - DNA Copy Number Variations KW - DNA Methyltransferase 3A KW - Gene Expression Regulation, Neoplastic KW - High-Throughput Nucleotide Sequencing KW - Humans KW - Liquid Biopsy KW - Lymphoma, T-Cell KW - Male KW - Middle Aged KW - Neoplasm Proteins KW - Proto-Oncogene Proteins B-raf KW - Retinal Neoplasms KW - Vitreous Body AB -

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 and copy number loss of tumor suppressor . 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.

VL - 22 IS - 11 ER -