Title | Molecular Characterization of a Rare Case of Bilateral Vitreoretinal T Cell Lymphoma through Vitreous Liquid Biopsy. |
Publication Type | Journal Article |
Year of Publication | 2021 |
Authors | Cani, 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. |
Journal | Int J Mol Sci |
Volume | 22 |
Issue | 11 |
Date Published | 2021 Jun 05 |
ISSN | 1422-0067 |
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 |
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. |
DOI | 10.3390/ijms22116099 |
Alternate Journal | Int J Mol Sci |
PubMed ID | 34198843 |
PubMed Central ID | PMC8201094 |
Grant List | K12EY022299 / 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 |