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

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 sampl...

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Autores principales: 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., Rao, Rajesh C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8201094/
https://www.ncbi.nlm.nih.gov/pubmed/34198843
http://dx.doi.org/10.3390/ijms22116099
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author 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.
Rao, Rajesh C.
author_facet 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.
Rao, Rajesh C.
author_sort Cani, Andi K.
collection PubMed
description 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 BRAF and copy number loss of tumor suppressor DNMT3A. 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.
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spelling pubmed-82010942021-06-15 Molecular Characterization of a Rare Case of Bilateral Vitreoretinal T Cell Lymphoma through Vitreous Liquid Biopsy 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. Rao, Rajesh C. Int J Mol Sci Case Report 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 BRAF and copy number loss of tumor suppressor DNMT3A. 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. MDPI 2021-06-05 /pmc/articles/PMC8201094/ /pubmed/34198843 http://dx.doi.org/10.3390/ijms22116099 Text en © 2021 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Case Report
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.
Rao, Rajesh C.
Molecular Characterization of a Rare Case of Bilateral Vitreoretinal T Cell Lymphoma through Vitreous Liquid Biopsy
title Molecular Characterization of a Rare Case of Bilateral Vitreoretinal T Cell Lymphoma through Vitreous Liquid Biopsy
title_full Molecular Characterization of a Rare Case of Bilateral Vitreoretinal T Cell Lymphoma through Vitreous Liquid Biopsy
title_fullStr Molecular Characterization of a Rare Case of Bilateral Vitreoretinal T Cell Lymphoma through Vitreous Liquid Biopsy
title_full_unstemmed Molecular Characterization of a Rare Case of Bilateral Vitreoretinal T Cell Lymphoma through Vitreous Liquid Biopsy
title_short Molecular Characterization of a Rare Case of Bilateral Vitreoretinal T Cell Lymphoma through Vitreous Liquid Biopsy
title_sort molecular characterization of a rare case of bilateral vitreoretinal t cell lymphoma through vitreous liquid biopsy
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8201094/
https://www.ncbi.nlm.nih.gov/pubmed/34198843
http://dx.doi.org/10.3390/ijms22116099
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