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Molecular Characterization of a Rare Case of Bilateral Vitreoretinal T Cell Lymphoma through Vitreous Liquid Biopsy
oleh: Andi K. Cani, Marcus A. Toral, Daniel A. Balikov, Bryan L. Betz, Kevin Hu, Chia-Jen Liu, Matthew V. Prifti, Arul M. Chinnaiyan, Scott A. Tomlins, Vinit B. Mahajan, Rajesh C. Rao
| Format: | Article |
|---|---|
| Diterbitkan: | MDPI AG 2021-06-01 |
Deskripsi
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 <i>BRAF</i> and copy number loss of tumor suppressor <i>DNMT3A</i>. 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.