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Primary Vitreoretinal Lymphoma: Current Diagnostic Laboratory Tests and New Emerging Molecular Tools
Primary vitreoretinal lymphoma (PVRL), a rare aggressive malignancy primarily involving the retina and/or the vitreous, is a major diagnostic challenge for clinicians (who commonly misdiagnose it as chronic uveitis) as well as for pathologists (for biological and technical reasons). Delays in diagno...
Autores principales: | , , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9600627/ https://www.ncbi.nlm.nih.gov/pubmed/36290820 http://dx.doi.org/10.3390/curroncol29100543 |
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author | Melli, Beatrice Gentile, Pietro Nicoli, Davide Farnetti, Enrico Croci, Stefania Gozzi, Fabrizio Bolletta, Elena De Simone, Luca Sanguedolce, Francesca Palicelli, Andrea Zizzo, Maurizio Ricci, Stefano Ilariucci, Fiorella Rossi, Cristiana Cavazza, Alberto Ascani, Stefano Cimino, Luca Zanelli, Magda |
author_facet | Melli, Beatrice Gentile, Pietro Nicoli, Davide Farnetti, Enrico Croci, Stefania Gozzi, Fabrizio Bolletta, Elena De Simone, Luca Sanguedolce, Francesca Palicelli, Andrea Zizzo, Maurizio Ricci, Stefano Ilariucci, Fiorella Rossi, Cristiana Cavazza, Alberto Ascani, Stefano Cimino, Luca Zanelli, Magda |
author_sort | Melli, Beatrice |
collection | PubMed |
description | Primary vitreoretinal lymphoma (PVRL), a rare aggressive malignancy primarily involving the retina and/or the vitreous, is a major diagnostic challenge for clinicians (who commonly misdiagnose it as chronic uveitis) as well as for pathologists (for biological and technical reasons). Delays in diagnosis and treatment are responsible for visual impairments and life-threatening consequences, usually related to central nervous system involvement. The identification of lymphoma cells in vitreous fluid, obtained by vitrectomy, is required for diagnosis. Of note, the scarcity of neoplastic cells in small volumes of vitreous sample, and the fragility of lymphoma cells with degenerative changes caused by previous steroid use for presumed uveitis makes diagnosis based on cytology plus immunophenotyping difficult. Interleukin levels, immunoglobulin heavy chain or T-cell receptor gene rearrangements, and MYD88 mutation are applied in combination with cytology to support diagnosis. We aim to describe the current laboratory technologies for PVRL diagnosis, focusing on the main issues that these methods have. In addition, new emerging diagnostic strategies, such as next-generation sequencing analysis, are discussed. The genetic profile of PVRL remains largely unexplored. Better knowledge of genetic alterations is critical for precision medicine interventions with target-based treatments of this lymphoma for which no standardised treatment protocol currently exists. |
format | Online Article Text |
id | pubmed-9600627 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-96006272022-10-27 Primary Vitreoretinal Lymphoma: Current Diagnostic Laboratory Tests and New Emerging Molecular Tools Melli, Beatrice Gentile, Pietro Nicoli, Davide Farnetti, Enrico Croci, Stefania Gozzi, Fabrizio Bolletta, Elena De Simone, Luca Sanguedolce, Francesca Palicelli, Andrea Zizzo, Maurizio Ricci, Stefano Ilariucci, Fiorella Rossi, Cristiana Cavazza, Alberto Ascani, Stefano Cimino, Luca Zanelli, Magda Curr Oncol Review Primary vitreoretinal lymphoma (PVRL), a rare aggressive malignancy primarily involving the retina and/or the vitreous, is a major diagnostic challenge for clinicians (who commonly misdiagnose it as chronic uveitis) as well as for pathologists (for biological and technical reasons). Delays in diagnosis and treatment are responsible for visual impairments and life-threatening consequences, usually related to central nervous system involvement. The identification of lymphoma cells in vitreous fluid, obtained by vitrectomy, is required for diagnosis. Of note, the scarcity of neoplastic cells in small volumes of vitreous sample, and the fragility of lymphoma cells with degenerative changes caused by previous steroid use for presumed uveitis makes diagnosis based on cytology plus immunophenotyping difficult. Interleukin levels, immunoglobulin heavy chain or T-cell receptor gene rearrangements, and MYD88 mutation are applied in combination with cytology to support diagnosis. We aim to describe the current laboratory technologies for PVRL diagnosis, focusing on the main issues that these methods have. In addition, new emerging diagnostic strategies, such as next-generation sequencing analysis, are discussed. The genetic profile of PVRL remains largely unexplored. Better knowledge of genetic alterations is critical for precision medicine interventions with target-based treatments of this lymphoma for which no standardised treatment protocol currently exists. MDPI 2022-09-24 /pmc/articles/PMC9600627/ /pubmed/36290820 http://dx.doi.org/10.3390/curroncol29100543 Text en © 2022 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 | Review Melli, Beatrice Gentile, Pietro Nicoli, Davide Farnetti, Enrico Croci, Stefania Gozzi, Fabrizio Bolletta, Elena De Simone, Luca Sanguedolce, Francesca Palicelli, Andrea Zizzo, Maurizio Ricci, Stefano Ilariucci, Fiorella Rossi, Cristiana Cavazza, Alberto Ascani, Stefano Cimino, Luca Zanelli, Magda Primary Vitreoretinal Lymphoma: Current Diagnostic Laboratory Tests and New Emerging Molecular Tools |
title | Primary Vitreoretinal Lymphoma: Current Diagnostic Laboratory Tests and New Emerging Molecular Tools |
title_full | Primary Vitreoretinal Lymphoma: Current Diagnostic Laboratory Tests and New Emerging Molecular Tools |
title_fullStr | Primary Vitreoretinal Lymphoma: Current Diagnostic Laboratory Tests and New Emerging Molecular Tools |
title_full_unstemmed | Primary Vitreoretinal Lymphoma: Current Diagnostic Laboratory Tests and New Emerging Molecular Tools |
title_short | Primary Vitreoretinal Lymphoma: Current Diagnostic Laboratory Tests and New Emerging Molecular Tools |
title_sort | primary vitreoretinal lymphoma: current diagnostic laboratory tests and new emerging molecular tools |
topic | Review |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9600627/ https://www.ncbi.nlm.nih.gov/pubmed/36290820 http://dx.doi.org/10.3390/curroncol29100543 |
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