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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...

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Autores principales: Del Savio, Elisa, Maestro, Roberta
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
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.
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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
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