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Next-Generation Technologies and Strategies for the Management of Retinoblastoma

Retinoblastoma (RB) is an inherited retinal disorder (IRD) caused by the mutation in the RB1 gene or, rarely, by alterations in the MYCN gene. In recent years, new treatment advances have increased ocular and visual preservation in the developed world. The management of RB has improved significantly...

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Autores principales: Gudiseva, Harini V., Berry, Jesse L., Polski, Ashley, Tummina, Santa J., O’Brien, Joan M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6947430/
https://www.ncbi.nlm.nih.gov/pubmed/31835688
http://dx.doi.org/10.3390/genes10121032
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author Gudiseva, Harini V.
Berry, Jesse L.
Polski, Ashley
Tummina, Santa J.
O’Brien, Joan M.
author_facet Gudiseva, Harini V.
Berry, Jesse L.
Polski, Ashley
Tummina, Santa J.
O’Brien, Joan M.
author_sort Gudiseva, Harini V.
collection PubMed
description Retinoblastoma (RB) is an inherited retinal disorder (IRD) caused by the mutation in the RB1 gene or, rarely, by alterations in the MYCN gene. In recent years, new treatment advances have increased ocular and visual preservation in the developed world. The management of RB has improved significantly in recent decades, from the use of external beam radiation to recently, more localized treatments. Determining the underlying genetic cause of RB is critical for timely management decisions. The advent of next-generation sequencing technologies have assisted in understanding the molecular pathology of RB. Liquid biopsy of the aqueous humor has also had significant potential implications for tumor management. Currently, patients’ genotypic information, along with RB phenotypic presentation, are considered carefully when making treatment decisions aimed at globe preservation. Advances in molecular testing that improve our understanding of the molecular pathology of RB, together with multiple directed treatment options, are critical for developing precision medicine strategies to treat this disease.
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spelling pubmed-69474302020-01-13 Next-Generation Technologies and Strategies for the Management of Retinoblastoma Gudiseva, Harini V. Berry, Jesse L. Polski, Ashley Tummina, Santa J. O’Brien, Joan M. Genes (Basel) Review Retinoblastoma (RB) is an inherited retinal disorder (IRD) caused by the mutation in the RB1 gene or, rarely, by alterations in the MYCN gene. In recent years, new treatment advances have increased ocular and visual preservation in the developed world. The management of RB has improved significantly in recent decades, from the use of external beam radiation to recently, more localized treatments. Determining the underlying genetic cause of RB is critical for timely management decisions. The advent of next-generation sequencing technologies have assisted in understanding the molecular pathology of RB. Liquid biopsy of the aqueous humor has also had significant potential implications for tumor management. Currently, patients’ genotypic information, along with RB phenotypic presentation, are considered carefully when making treatment decisions aimed at globe preservation. Advances in molecular testing that improve our understanding of the molecular pathology of RB, together with multiple directed treatment options, are critical for developing precision medicine strategies to treat this disease. MDPI 2019-12-11 /pmc/articles/PMC6947430/ /pubmed/31835688 http://dx.doi.org/10.3390/genes10121032 Text en © 2019 by the authors. 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 (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Review
Gudiseva, Harini V.
Berry, Jesse L.
Polski, Ashley
Tummina, Santa J.
O’Brien, Joan M.
Next-Generation Technologies and Strategies for the Management of Retinoblastoma
title Next-Generation Technologies and Strategies for the Management of Retinoblastoma
title_full Next-Generation Technologies and Strategies for the Management of Retinoblastoma
title_fullStr Next-Generation Technologies and Strategies for the Management of Retinoblastoma
title_full_unstemmed Next-Generation Technologies and Strategies for the Management of Retinoblastoma
title_short Next-Generation Technologies and Strategies for the Management of Retinoblastoma
title_sort next-generation technologies and strategies for the management of retinoblastoma
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6947430/
https://www.ncbi.nlm.nih.gov/pubmed/31835688
http://dx.doi.org/10.3390/genes10121032
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