What does this research mean for the field?

Intra-abdominal caecal desmoid tumours can clinically and radiologically mimic gastrointestinal stromal tumours (GIST), necessitating immunohistochemical analysis for accurate diagnosis and surgical resection for symptomatic management. Novelty: ClaimNovelty.INCREMENTAL. Consensus alignment: ConsensusAlignment.NEUTRAL.

What question did this study set out to answer?

The aim is to highlight the challenges in diagnosing intra-abdominal desmoid tumours that resemble malignancies like GIST.

April 26, 2026

Intra-abdominal caecal desmoid tumour masquerading as gastrointestinal stromal tumour: a clinical insight

Key Points

The aim is to highlight the challenges in diagnosing intra-abdominal desmoid tumours that resemble malignancies like GIST.
Case presentation involved clinical evaluation, imaging studies including colonoscopy and CT scans, and histological assessment.
A limited right hemicolectomy was performed based on frozen section results showing a spindle cell tumour.
Immunohistochemistry confirmed diagnosis through nuclear β-catenin positivity and negative C-kit (CD117) results.
The imaging indicated a lesion suggestive of caecal GIST but turned out to be a desmoid tumour.
Histological findings confirmed mesenteric desmoid fibromatosis with spindle-shaped cells.
Surgery was found essential for symptomatic cases, highlighting its role as the mainstay of treatment.

Abstract

Intra-abdominal desmoid tumours are rare, benign yet locally aggressive fibroblastic neoplasms that often mimic malignancies such as gastrointestinal stromal tumours (GIST) on imaging, making preoperative diagnosis challenging. We present the case of a woman in her mid-30s with a 6-month history of recurrent colicky abdominal pain and intermittent non-bilious vomiting during abdominal pain. Examination revealed a firm, mobile, non-tender mass in the right iliac fossa. Colonoscopy showed a submucosal caecal lesion without ulceration, and contrast-enhanced CT revealed a well-defined, heterogenous, enhancing lesion arising from the caecum suggestive of caecal GIST. Intraoperatively, a firm caecal mass with mesenteric fibrosis and terminal ileal dilatation was found. A limited right hemicolectomy was performed after a frozen section showed a spindle cell tumour. Immunohistochemistry demonstrated nuclear β-catenin positivity with negative C-kit (CD117), discovered on GIST 1 (DOG1), and desmin, confirming mesenteric desmoid fibromatosis. Surgery remains the mainstay of treatment in symptomatic cases.

Perguntar à IA

Bookmark