@article {1861, title = {Molecular Characterization of a Rare Case of Bilateral Vitreoretinal T Cell Lymphoma through Vitreous Liquid Biopsy.}, journal = {Int J Mol Sci}, volume = {22}, year = {2021}, month = {2021 Jun 05}, 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 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.

}, keywords = {Biomarkers, Tumor, DNA (Cytosine-5-)-Methyltransferases, DNA Copy Number Variations, DNA Methyltransferase 3A, Gene Expression Regulation, Neoplastic, High-Throughput Nucleotide Sequencing, Humans, Liquid Biopsy, Lymphoma, T-Cell, Male, Middle Aged, Neoplasm Proteins, Proto-Oncogene Proteins B-raf, Retinal Neoplasms, Vitreous Body}, issn = {1422-0067}, doi = {10.3390/ijms22116099}, author = {Cani, Andi K and Toral, Marcus A and Balikov, Daniel A and Betz, Bryan L and Hu, Kevin and Liu, Chia-Jen and Prifti, Matthew V and Chinnaiyan, Arul M and Tomlins, Scott A and Mahajan, Vinit B and Rao, Rajesh C} }