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Beyond SMARCB1 Loss: Recent Insights into the Pathobiology of Epithelioid Sarcoma
Epithelioid sarcoma (ES) is a very rare and aggressive mesenchymal tumor of unclear origin and uncertain lineage characterized by a prevalent epithelioid morphology. The only recurrent genetic alteration reported in ES as yet is the functional inactivation of SMARCB1 (SWI/SNF-related matrix-associat...
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/PMC9454995/ https://www.ncbi.nlm.nih.gov/pubmed/36078034 http://dx.doi.org/10.3390/cells11172626 |
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author | Del Savio, Elisa Maestro, Roberta |
author_facet | Del Savio, Elisa Maestro, Roberta |
author_sort | Del Savio, Elisa |
collection | PubMed |
description | Epithelioid sarcoma (ES) is a very rare and aggressive mesenchymal tumor of unclear origin and uncertain lineage characterized by a prevalent epithelioid morphology. The only recurrent genetic alteration reported in ES as yet is the functional inactivation of SMARCB1 (SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1), a key component of the SWI/SNF (SWItch/Sucrose Non-Fermentable) chromatin remodeling complexes. How SMARCB1 deficiency dictates the clinicopathological characteristics of ES and what other molecular defects concur to its malignant progression is still poorly understood. This review summarizes the recent findings about ES pathobiology, including defects in chromatin remodeling and other signaling pathways and their role as therapeutic vulnerabilities. |
format | Online Article Text |
id | pubmed-9454995 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-94549952022-09-09 Beyond SMARCB1 Loss: Recent Insights into the Pathobiology of Epithelioid Sarcoma Del Savio, Elisa Maestro, Roberta Cells Review Epithelioid sarcoma (ES) is a very rare and aggressive mesenchymal tumor of unclear origin and uncertain lineage characterized by a prevalent epithelioid morphology. The only recurrent genetic alteration reported in ES as yet is the functional inactivation of SMARCB1 (SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1), a key component of the SWI/SNF (SWItch/Sucrose Non-Fermentable) chromatin remodeling complexes. How SMARCB1 deficiency dictates the clinicopathological characteristics of ES and what other molecular defects concur to its malignant progression is still poorly understood. This review summarizes the recent findings about ES pathobiology, including defects in chromatin remodeling and other signaling pathways and their role as therapeutic vulnerabilities. MDPI 2022-08-24 /pmc/articles/PMC9454995/ /pubmed/36078034 http://dx.doi.org/10.3390/cells11172626 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 Del Savio, Elisa Maestro, Roberta Beyond SMARCB1 Loss: Recent Insights into the Pathobiology of Epithelioid Sarcoma |
title | Beyond SMARCB1 Loss: Recent Insights into the Pathobiology of Epithelioid Sarcoma |
title_full | Beyond SMARCB1 Loss: Recent Insights into the Pathobiology of Epithelioid Sarcoma |
title_fullStr | Beyond SMARCB1 Loss: Recent Insights into the Pathobiology of Epithelioid Sarcoma |
title_full_unstemmed | Beyond SMARCB1 Loss: Recent Insights into the Pathobiology of Epithelioid Sarcoma |
title_short | Beyond SMARCB1 Loss: Recent Insights into the Pathobiology of Epithelioid Sarcoma |
title_sort | beyond smarcb1 loss: recent insights into the pathobiology of epithelioid sarcoma |
topic | Review |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9454995/ https://www.ncbi.nlm.nih.gov/pubmed/36078034 http://dx.doi.org/10.3390/cells11172626 |
work_keys_str_mv | AT delsavioelisa beyondsmarcb1lossrecentinsightsintothepathobiologyofepithelioidsarcoma AT maestroroberta beyondsmarcb1lossrecentinsightsintothepathobiologyofepithelioidsarcoma |