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An Adrenal SMARCB1/INI1 Deficient Proximal Epithelioid Sarcoma in a Middle-Aged Female: A Case Report
Proximal epithelioid sarcomas are rare soft tissue sarcomas that have been documented in a diverse range of presentations. However, there have been few cases describing adrenal presentations. These neoplasms are thought to be driven by a loss of SWItch/sucrose non-fermentable (SWI/SNF)-related matri...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cureus
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9573787/ https://www.ncbi.nlm.nih.gov/pubmed/36262954 http://dx.doi.org/10.7759/cureus.29242 |
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author | Brodie, Zachary McCartney, Erin Toledo, Sergio |
author_facet | Brodie, Zachary McCartney, Erin Toledo, Sergio |
author_sort | Brodie, Zachary |
collection | PubMed |
description | Proximal epithelioid sarcomas are rare soft tissue sarcomas that have been documented in a diverse range of presentations. However, there have been few cases describing adrenal presentations. These neoplasms are thought to be driven by a loss of SWItch/sucrose non-fermentable (SWI/SNF)-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1 (SMARCB1), also known as integrase interactor 1 (INI1). SMARCB1/INI1 is a tumor suppressor gene thought to play a role in multiple malignancies with varying degrees of gene expression. Complete loss of SMARCB1/INI1 has most commonly been described in the English scientific literature as malignant rhabdoid tumors of renal origin within pediatric populations and proximal epithelioid sarcomas in adult populations. We describe a case of a primary adrenal proximal epithelioid sarcoma demonstrating complete loss of SMARCB1/INI1 in a middle-aged adult female. |
format | Online Article Text |
id | pubmed-9573787 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Cureus |
record_format | MEDLINE/PubMed |
spelling | pubmed-95737872022-10-18 An Adrenal SMARCB1/INI1 Deficient Proximal Epithelioid Sarcoma in a Middle-Aged Female: A Case Report Brodie, Zachary McCartney, Erin Toledo, Sergio Cureus Pathology Proximal epithelioid sarcomas are rare soft tissue sarcomas that have been documented in a diverse range of presentations. However, there have been few cases describing adrenal presentations. These neoplasms are thought to be driven by a loss of SWItch/sucrose non-fermentable (SWI/SNF)-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1 (SMARCB1), also known as integrase interactor 1 (INI1). SMARCB1/INI1 is a tumor suppressor gene thought to play a role in multiple malignancies with varying degrees of gene expression. Complete loss of SMARCB1/INI1 has most commonly been described in the English scientific literature as malignant rhabdoid tumors of renal origin within pediatric populations and proximal epithelioid sarcomas in adult populations. We describe a case of a primary adrenal proximal epithelioid sarcoma demonstrating complete loss of SMARCB1/INI1 in a middle-aged adult female. Cureus 2022-09-16 /pmc/articles/PMC9573787/ /pubmed/36262954 http://dx.doi.org/10.7759/cureus.29242 Text en Copyright © 2022, Brodie et al. https://creativecommons.org/licenses/by/3.0/This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. |
spellingShingle | Pathology Brodie, Zachary McCartney, Erin Toledo, Sergio An Adrenal SMARCB1/INI1 Deficient Proximal Epithelioid Sarcoma in a Middle-Aged Female: A Case Report |
title | An Adrenal SMARCB1/INI1 Deficient Proximal Epithelioid Sarcoma in a Middle-Aged Female: A Case Report |
title_full | An Adrenal SMARCB1/INI1 Deficient Proximal Epithelioid Sarcoma in a Middle-Aged Female: A Case Report |
title_fullStr | An Adrenal SMARCB1/INI1 Deficient Proximal Epithelioid Sarcoma in a Middle-Aged Female: A Case Report |
title_full_unstemmed | An Adrenal SMARCB1/INI1 Deficient Proximal Epithelioid Sarcoma in a Middle-Aged Female: A Case Report |
title_short | An Adrenal SMARCB1/INI1 Deficient Proximal Epithelioid Sarcoma in a Middle-Aged Female: A Case Report |
title_sort | adrenal smarcb1/ini1 deficient proximal epithelioid sarcoma in a middle-aged female: a case report |
topic | Pathology |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9573787/ https://www.ncbi.nlm.nih.gov/pubmed/36262954 http://dx.doi.org/10.7759/cureus.29242 |
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