Year 2023 / Volume 115 / Number 5
Digestive Diseases Image
Don't burn the blanket to kill a flea: a case of intra-abdominal desmoid fibromatosis

259-260

DOI: 10.17235/reed.2022.8873/2022

Alexandra Libert, Mesut Mutluoglu, Stefaan Gryspeerdt, Veerle Mertens Gryspeerdt,

Abstract
A 39-year-old woman presented to the Emergency Department with dysuria and persistent abdominal pain for several weeks. The pain increased with palpation. Physical examination was otherwise normal. Computerized tomography (CT) scan revealed a round structure of unknown origin against the caecum and terminal ilium suspect for a GIST tumor and a fluid-filled right uterine tube suggestive of pyosalpinx. The following day a laparoscopic surgery with removal of the pyosalpinx and complete right hemi-colon including the suspected lesion was performed and biopsies of the surrounding peritoneum, meso and ileum were taken. Immunohistochemical tests (CD117/DOG1) and molecular analysis (KIT/PDGFRA) ruled out GIST. SMA and desmin were also negative. β-catenin along with next generation sequencing which revealed a likely pathogenic mutation in exon 3 of the CTNNB1 gene, suggested a diagnosis of desmoid-type fibromatosis (DF). Biopsies of the lymph nodes were negative.
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References
1. Wu CE, Tzen CY, Wang SY, Yeh CN. Clinical Diagnosis of Gastrointestinal Stromal Tumor (GIST): From the Molecular Genetic Point of View. Cancers (Basel). 2019 May 16;11(5):679. doi: 10.3390/cancers11050679. PMID: 31100836; PMCID: PMC6563074.
2. Mullen JT, DeLaney TF, Rosenberg AE, Le L, Iafrate AJ, Kobayashi W, et al. β-Catenin mutation status and outcomes in sporadic desmoid tumors. Oncologist. 2013;18(9):1043-9.
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Libert A, Mutluoglu M, Gryspeerdt S, Gryspeerdt V. Don't burn the blanket to kill a flea: a case of intra-abdominal desmoid fibromatosis. 8873/2022


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Publication history

Received: 19/04/2022

Accepted: 26/04/2022

Online First: 29/04/2022

Published: 05/05/2023

Article Online First time: 10 days

Article editing time: 381 days


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