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Molecular Characterization of a Rare Case of Bilateral Vitreoretinal T Cell Lymphoma through Vitreous Liquid Biopsy.

TitleMolecular Characterization of a Rare Case of Bilateral Vitreoretinal T Cell Lymphoma through Vitreous Liquid Biopsy.
Publication TypeJournal Article
Year of Publication2021
AuthorsCani, Andi K., Toral Marcus A., Balikov Daniel A., Betz Bryan L., Hu Kevin, Liu Chia-Jen, Prifti Matthew V., Chinnaiyan Arul M., Tomlins Scott A., Mahajan Vinit B., and Rao Rajesh C.
JournalInt J Mol Sci
Volume22
Issue11
Date Published2021 Jun 05
ISSN1422-0067
KeywordsBiomarkers, 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
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.

DOI10.3390/ijms22116099
Alternate JournalInt J Mol Sci
PubMed ID34198843
PubMed Central IDPMC8201094
Grant ListK12EY022299 / NH / NIH HHS / United States
K08EY026654 / NH / NIH HHS / United States
R01EY030151 / NH / NIH HHS / United States
P30EY026877 / NH / NIH HHS / United States
P30CA046592 / NH / NIH HHS / United States
R01EY031360 / NH / NIH HHS / United States
T32 GM007337 / GM / NIGMS NIH HHS / United States
(department fund) / / Research to Prevent Blindness /
T32GM113900 / NH / NIH HHS / United States
R01EY030989 / NH / NIH HHS / United States
R01EY031952 / NH / NIH HHS / United States