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The Desmoid Tumor Research Foundation

November 2022

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

Author Information

Albino L (1), Guo Y (2), Bacani J (3), Mather C (3), Nilsson JE (2), Dieleman LA (2).

(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.

Publication

Front Med (Lausanne)

Summary

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.

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