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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| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2022-01-01
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| Series: | Case Reports in Pediatrics |
| Online Access: | http://dx.doi.org/10.1155/2022/7519456 |
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| _version_ | 1850225981237755904 |
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| author | Kimberly Pereira Arati A. Inamdar Aditi Zaveri Jonathan E. Teitelbaum Wendy Shertz Kenneth Belitsis |
| author_facet | Kimberly Pereira Arati A. Inamdar Aditi Zaveri Jonathan E. Teitelbaum Wendy Shertz Kenneth Belitsis |
| author_sort | Kimberly Pereira |
| collection | DOAJ |
| 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. |
| format | Article |
| id | doaj-art-5282b5200f2a446da31395f1bf2c536f |
| institution | OA Journals |
| issn | 2090-6811 |
| language | English |
| publishDate | 2022-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Pediatrics |
| spelling | doaj-art-5282b5200f2a446da31395f1bf2c536f2025-08-20T02:05:12ZengWileyCase Reports in Pediatrics2090-68112022-01-01202210.1155/2022/7519456A Rare Case of a Translocation-Associated Perivascular Epithelioid Cell Neoplasm (PEComa)Kimberly Pereira0Arati A. Inamdar1Aditi Zaveri2Jonathan E. Teitelbaum3Wendy Shertz4Kenneth Belitsis5Department of PediatricsDepartment of PathologyDepartment of PediatricsDepartment of PediatricsDepartment of PathologyMonmouth GastroenterologyA 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.http://dx.doi.org/10.1155/2022/7519456 |
| spellingShingle | Kimberly Pereira Arati A. Inamdar Aditi Zaveri Jonathan E. Teitelbaum Wendy Shertz Kenneth Belitsis A Rare Case of a Translocation-Associated Perivascular Epithelioid Cell Neoplasm (PEComa) Case Reports in Pediatrics |
| 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 |
| url | http://dx.doi.org/10.1155/2022/7519456 |
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