Case report: Desmoid fibromatosis diagnosed in a 27-year-old male after being mistaken for a gastrointestinal stromal tumour

Larissa Albino; Yimeng Guo; Julinor Bacani; Cheryl Mather; Jan-Erick Nilsson; Levinus A Dieleman

doi:10.3389/fmed.2022.998473

Case report: Desmoid fibromatosis diagnosed in a 27-year-old male after being mistaken for a gastrointestinal stromal tumour

Front Med (Lausanne). 2022 Nov 10:9:998473. doi: 10.3389/fmed.2022.998473. eCollection 2022.

Authors

Larissa Albino¹, Yimeng Guo², Julinor Bacani³, Cheryl Mather³, Jan-Erick Nilsson², Levinus A Dieleman²

Affiliations

¹ Department of Medicine, University of Alberta, Edmonton, AB, Canada.
² Division of Gastroenterology, University of Alberta, Edmonton, AB, Canada.
³ Division of Anatomical Pathology, Department of Laboratory Medicine and Pathology, University of Alberta, Edmonton, AB, Canada.

Abstract

Despite being distinct lesions, gastrointestinal stromal tumours (GISTs) and desmoid fibromatosis may appear similar on imaging when they involve the stomach wall or bowel. As a result, they may be confused with one another when initially diagnosed. This report aims to present a case where a desmoid tumour was mistaken for a gastric GIST in a 27-year-old gentleman despite extensive investigation prior to exploratory laparotomy, and why differentiation through pathology, with a focus on the immunohistochemistry profile, is key for proper prognostication and appropriate management, including timely investigation for associated diseases such as Familial Adenomatous Polyposis in patients with desmoid tumours.

Keywords: GIST; case report; desmoid fibromatosis; desmoid tumour; gastrointestinal stromal tumour.

Publication types

Case Reports