Rectal gastrointestinal stromal tumor (GIST) in a patient with Crohn’s disease: a rare coincidence case report and brief literature review

Sep 21, 2026

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Gastrointestinal stromal tumors (GISTs) are the most common gastrointestinal mesenchymal neoplasms, typically arising in the stomach and small intestine, while anorectal GISTs are exceptionally rare. Crohn’s disease (CD) is associated with an increased risk of colorectal cancers, and rectal masses in CD are usually expected to represent adenocarcinoma. Here, a 41-year-old woman with CD developed 8 weeks of constipation and was diagnosed with rectal GIST, and existing GIST reports in inflammatory bowel disease are briefly reviewed.

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Introduction

Case report

Patient presentation and diagnosis

Oxford Medical Case Reports, 2024, 5, 185–189 [https://doi.org/10.1093/omcr/omae039](https://doi.org/10.1093/omcr/omae039) Case Report Rectal gastrointestinal stromal tumor (GIST) in a patient with Crohn’s disease: a rare coincidence case report and brief literature review Amir Sadeghi1 , Pardis Ketabi Moghadam 1 , Forough Mangeli2 , Mahsa Mohammadi1 , Erfan Ghadirzadeh 3 , *,† and Mohsen Rajabnia 4 , * 1 Gastroenterology and Liver Diseases Research Center, Research Institute for Gastroenterology and Liver Diseases, Shahid Beheshti University of Medical Sciences, Tehran province, Tehran, Iran 2 Clinical Pathologist, Department of Pathology, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran province, Tehran, Iran 3 Gut and Liver Research Center, Non-communicable Diseases Institute, Mazandaran University of Medical Sciences, Mazandaran province, Sari, Iran 4Non-Communicable Diseases Research Center, Alborz University of Medical Sciences, Alborz province, Karaj, Iran *Correspondence address. Mohsen Rajabnia, Non-Communicable Diseases Research Center, Alborz University of Medical Sciences, P. O.BOX: 4816117949, Karaj, Iran. Tel: +989357719022, Fax: (026) 34643705, E-mail: [dr.rajabnia@outlook.com](dr.rajabnia@outlook.com) †Co-correspondence. Erfan Ghadirzadeh, Medical Doctor, Gut and Liver Research Center, Non-communicable Diseases Institute, Mazandaran University of Medical Sciences, P. O. BOX: 4816117949, Sari, Iran. Tel: +989118893919, Fax: +98 (151) 326 1244, Email: [er.ghadirzadeh@gmail.com](er.ghadirzadeh@gmail.com) Abstract Gastrointestinal stromal tumors (GISTs) are the most common type of gastrointestinal mesenchymal tumors. The most common site for developing these neoplasms is the stomach and small intestine. In contrast, anorectal GISTs are very rare. Population-based studies have shown an increased risk of colorectal cancers (CRC) in patients with Crohn’s disease (CD) . As in sporadic CRC, adenocarcinomas are the most commonly observed tumor. Accordingly, it is expected that rectal mass in CD patients to be an adenocarcinoma. Some reports have presented CD cases with GISTs along the gastrointestinal tract; however, to the best of our knowledge, a rectal GIST has not been reported in CD. Herein, we report a 41-year-old woman with CD who presented with 8 weeks of constipation and was diagnosed with rectal GIST and briefly review existing reports regarding GIST in IBD. Keywords: gastrointestinal stromal tumor, colorectal neoplasms, Crohn disease, inflammatory bowel diseases, case report INTRODUCTION Gastrointestinal stromal tumors (GISTs) are the most common type of gastrointestinal mesenchymal tumor, accounting for 0. 1%–3% of all gastrointestinal malignant neoplasms [1] . GISTs may occur in any portion of the gastrointestinal (GI) tract. The most common site for developing these neoplasms is the stomach and small intestine. In contrast, anorectal GISTs are rare, as the incidence rate of anorectal GIST is 0.018 per 100000 person-years, approximately 0.1% of all rectal neoplasms, and comprised 2.8% of all GISTs [2] . Crohn’s disease (CD) is a subtype of inflammatory bowel disease (IBD) . The incidence and prevalence of CD in Western Asia have been reported to be 0.94–8.4 per person-years and 50.6–53.1 per 100000 persons, respectively [3] . Population-based studies have shown an increased risk of colorectal cancers (CRC) in CD patients (2.5–3.4 fold in any patient with CD and 5.6–18 fold inpatients with colonic CD) [4 , 5] . As in sporadic CRC, adenocarcinomas are the most commonly observed tumor usually in chronic long-standing IBDs. Accordingly, it is expected that rectal mass in Crohn’s patients to be an adenocarcinoma, and the presence of GIST is very rare. To the best of our knowledge, a rectal GIST has not been reported in CD yet (only one article was found reporting rectal GIST in a patient with Ulcerative Colitis [6]) . In this case report, we aimed to pre

FAQs

Why was a rectal GIST unexpected in a patient with Crohn’s disease?

Crohn’s disease increases colorectal cancer risk, so rectal masses are usually assumed to be adenocarcinoma. In contrast, anorectal GISTs and specifically rectal GIST in CD are described as extremely rare, with no prior reports known at the time.

What symptoms and clinical context were reported for the case?

A 41-year-old woman with Crohn’s disease presented with 8 weeks of constipation. She did not report systemic symptoms such as fever, sweating, or weight loss, nor other gastrointestinal symptoms like rectal bleeding or abdominal discomfort.

How was the rectal lesion evaluated and characterized?

Colonoscopy identified a 25 mm submucosal lesion in the upper rectum, and a few aphthous ulcers were seen in the terminal ileum. Endoscopic ultrasonography further characterized the lesion as a hypoechoic 26 mm × 26 mm mass.

Sep 21, 2026

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