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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http://dx.doi.org/10.3389/fmed.2022.998473 | DOI Listing |
World J Surg Oncol
January 2025
Department of Pathology, Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine, 1665 Kongjiang Road, Yangpu District, Shanghai, 200092, China.
Objective: This study aimed to compare the expression of lymphoid enhancer factor 1 (LEF1) and β-catenin in basal cell adenoma (BA), desmoid-type fibromatosis (DF), and pancreatic solid pseudopapillary neoplasm (SPN) to evaluate their diagnostic utility in tumors associated with the WNT/β-catenin signaling pathway harboring the mutation of CTNNB1 gene 3 exon.
Methods: Eighty tumor patients, including 26 BAs, 30 DFs, and 24 SPNs, were analyzed. Immunohistochemical staining was identified positive (nuclear staining of LEF1 and β-catenin in > 50% of tumor cells).
Int J Surg Case Rep
January 2025
Department of Obstetrics and Gynecology, Tahar Sfar University Hospital, 5111 Mahdia, Tunisia.
Introduction And Importance: Desmoid tumours typically arise in the abdomen and extremities. They are rare, originating from mesenchymal cells, with intra-abdominal desmoid tumours (DT) being even less common. While non-malignant and non-metastatic, they can be locally invasive, often necessitating surgical intervention for complete resection.
View Article and Find Full Text PDFAME Case Rep
December 2024
Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Background: Fibromatosis of the breast, also known as desmoid-type fibromatosis (DTF), is a rare tumor marked by the development of non-metastatic, locally aggressive tumors in breast tissue. It represents only 0.2% of all breast tumors.
View Article and Find Full Text PDFJ Clin Med
January 2025
Department XI Pediatrics, Discipline I Pediatrics, 'Victor Babeș' University of Medicine and Pharmacy of Timișoara, 300041 Timișoara, Romania.
The prevalence of goiter, thyroid nodules, and thyroid cancers in the pediatric population has increased. In some rare cases, local conditions such as juvenile desmoid-type fibromatosis (JDTF) can mimic specific thyroid pathology, complicating the diagnostic process. A 17-year-old obese adolescent girl was admitted to the Endocrinology Department with progressive swelling on the left side of the neck, persisting for approximately one year, recently accompanied by dysphonia and inspiratory dyspnea, and ultimately diagnosed as a unilateral nodular goiter associated with compressive phenomena.
View Article and Find Full Text PDFLife (Basel)
January 2025
Faculty of Medicine, Carol Davila University of Medicine and Pharmacy, 050474 Bucharest, Romania.
Desmoid tumors are a rare entity, especially in the pediatric population. There are no reports of such a tumor in newborns. They are associated with high rates of morbidity and mortality, even though they are benign soft tissue tumors.
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