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

Kimberly Pereira; Arati A Inamdar; Aditi Zaveri; Jonathan E Teitelbaum; Wendy Shertz; Kenneth Belitsis

doi:10.1155/2022/7519456

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

Case Rep Pediatr. 2022 Apr 21:2022:7519456. doi: 10.1155/2022/7519456. eCollection 2022.

Authors

Kimberly Pereira¹, Arati A Inamdar², Aditi Zaveri¹, Jonathan E Teitelbaum¹, Wendy Shertz², Kenneth Belitsis³

Affiliations

¹ Department of Pediatrics, RWJBarnabas Health, Monmouth Medical Center, Long Branch, NJ 07740, USA.
² Department of Pathology, RWJBarnabas Health, Monmouth Medical Center, Long Branch, NJ 07740, USA.
³ Monmouth Gastroenterology, Monmouth Medical Center, Long Branch, NJ 07740, USA.

Abstract

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.

Publication types

Case Reports