A Rare Case of a Translocation-Associated Perivascular Epithelioid Cell Neoplasm (PEComa)

A perivascular epithelioid cell tumor (PEComa) is a rare mesenchymal neoplasm composed of perivascular epithelioid cells with distinctive histologic, immunohistochemical, and genetic features. PEComas arising from various anatomical sites have been reported, but gastrointestinal PEComas are extremel...

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Autores principales: Pereira, Kimberly, Inamdar, Arati A., Zaveri, Aditi, Teitelbaum, Jonathan E., Shertz, Wendy, Belitsis, Kenneth
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9050271/
https://www.ncbi.nlm.nih.gov/pubmed/35497648
http://dx.doi.org/10.1155/2022/7519456
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author Pereira, Kimberly
Inamdar, Arati A.
Zaveri, Aditi
Teitelbaum, Jonathan E.
Shertz, Wendy
Belitsis, Kenneth
author_facet Pereira, Kimberly
Inamdar, Arati A.
Zaveri, Aditi
Teitelbaum, Jonathan E.
Shertz, Wendy
Belitsis, Kenneth
author_sort Pereira, Kimberly
collection PubMed
description A perivascular epithelioid cell tumor (PEComa) is a rare mesenchymal neoplasm composed of perivascular epithelioid cells with distinctive histologic, immunohistochemical, and genetic features. PEComas arising from various anatomical sites have been reported, but gastrointestinal PEComas are extremely rare entities. Here, we discuss the clinical and pathological features of a gastrointestinal PEComa with a transcription factor E3 (TFE3) translocation in a 17-year old adolescent male with a clinical presentation of abdominal pain and gastrointestinal bleeding. Our case report provides insight into this rare entity as well as discusses the pathophysiological aspects of TFE3-SFPQ-associated GI PEComas and their management.
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spelling pubmed-90502712022-04-29 A Rare Case of a Translocation-Associated Perivascular Epithelioid Cell Neoplasm (PEComa) Pereira, Kimberly Inamdar, Arati A. Zaveri, Aditi Teitelbaum, Jonathan E. Shertz, Wendy Belitsis, Kenneth Case Rep Pediatr Case Report A perivascular epithelioid cell tumor (PEComa) is a rare mesenchymal neoplasm composed of perivascular epithelioid cells with distinctive histologic, immunohistochemical, and genetic features. PEComas arising from various anatomical sites have been reported, but gastrointestinal PEComas are extremely rare entities. Here, we discuss the clinical and pathological features of a gastrointestinal PEComa with a transcription factor E3 (TFE3) translocation in a 17-year old adolescent male with a clinical presentation of abdominal pain and gastrointestinal bleeding. Our case report provides insight into this rare entity as well as discusses the pathophysiological aspects of TFE3-SFPQ-associated GI PEComas and their management. Hindawi 2022-04-21 /pmc/articles/PMC9050271/ /pubmed/35497648 http://dx.doi.org/10.1155/2022/7519456 Text en Copyright © 2022 Kimberly Pereira et al. https://creativecommons.org/licenses/by/4.0/This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Pereira, Kimberly
Inamdar, Arati A.
Zaveri, Aditi
Teitelbaum, Jonathan E.
Shertz, Wendy
Belitsis, Kenneth
A Rare Case of a Translocation-Associated Perivascular Epithelioid Cell Neoplasm (PEComa)
title A Rare Case of a Translocation-Associated Perivascular Epithelioid Cell Neoplasm (PEComa)
title_full A Rare Case of a Translocation-Associated Perivascular Epithelioid Cell Neoplasm (PEComa)
title_fullStr A Rare Case of a Translocation-Associated Perivascular Epithelioid Cell Neoplasm (PEComa)
title_full_unstemmed A Rare Case of a Translocation-Associated Perivascular Epithelioid Cell Neoplasm (PEComa)
title_short A Rare Case of a Translocation-Associated Perivascular Epithelioid Cell Neoplasm (PEComa)
title_sort rare case of a translocation-associated perivascular epithelioid cell neoplasm (pecoma)
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9050271/
https://www.ncbi.nlm.nih.gov/pubmed/35497648
http://dx.doi.org/10.1155/2022/7519456
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