Gastric Crohn’s disease presenting as a subepithelial tumor: A case report

Abstract

BACKGROUND

Submucosal tumors arise from the subepithelial layer anywhere along the gastrointestinal tract, most commonly in the stomach. A wide range of lesions, from benign to malignant, may present as gastric submucosal tumors. However, the gastric involvement of Crohn’s disease (CD) is generally not considered in the differential diagnosis of such lesions.

CASE SUMMARY

A 23-year-old male patient presented with a gastric subepithelial tumor. The medical history included CD. Diagnostic workup revealed a 3-cm mucosal lesion with a central ulceration on the posterior wall of the distal antrum. The patient underwent laparoscopic wedge resection of stomach, and the postoperative course was uneventful. Histopathological analysis confirmed a diagnosis of gastric CD presenting as a subepithelial tumor.

CONCLUSION

Despite its rarity, upper gastrointestinal CD can present as a gastric subepithelial tumor, warranting consideration in young patients with CD.

Key Words: Crohn’s disease; Gastric involvement; Subepithelial tumor; Differential diagnosis; Endoscopic ultrasonography; Case report

Core Tip: Given the increasing incidence of Crohn’s disease (CD) and its decreasing age of onset, upper gastrointestinal involvement is expected to become more frequent. Although gastric CD typically presents as gastritis, erosions, atypical ulcers, a cobblestone appearance of the mucosa, or strictures, it can (albeit rarely) manifest as a subepithelial tumor, as demonstrated in this case. Therefore, when a gastric subepithelial lesion is detected-particularly in young patients with CD-endoscopic ultrasonography and histological assessment are essential to distinguish upper gastrointestinal involvement of CD from other etiologies.

INTRODUCTION

A subepithelial tumor (SET) is defined as a lesion arising beneath the epithelial layer of the gastrointestinal tract and can occur anywhere from the esophagus to the anus[1]. Among these, gastric SETs are the most common, with a reported prevalence of approximately 0.4%-1.9% in patients undergoing upper gastrointestinal (UGI) endoscopy[2]. Various lesions may appear as gastric SETs, ranging from benign tumors such as lipomas, leiomyomas, ectopic pancreas, and neurogenic tumors to malignant lesions including gastrointestinal stromal tumors (GISTs), lymphomas, gastric adenocarcinomas, and metastatic cancers[3].

Crohn’s disease (CD) is an inflammatory bowel disease that can involve any region of the gastrointestinal tract from the mouth to the anus, similar to SETs; however, CD primarily affects the terminal ileum and colon[4]. Involvement of the UGI tract in CD is uncommon, and even when the stomach is affected, typical manifestations include gastritis, erosions, atypical ulcers, a cobblestone appearance of the mucosa, or strictures. Thus, gastric CD is generally not considered in the differential diagnosis of gastric SETs[4].

Herein, we present a rare instance of gastric CD manifesting as an SET, incidentally detected during endoscopic surveillance in a patient with established CD. The lesion was resected via laparoscopic wedge resection, and histopathological examination revealed non-caseating granulomas, confirming the diagnosis of gastric CD presenting as an SET.

CASE PRESENTATION

Chief complaints

A 23-year-old male patient was referred from the Department of Gastroenterology to the Department of Surgery for surgical resection of a gastric SET, primarily to rule out a GIST. The patient was asymptomatic.

History of present illness

The patient reported no UGI symptoms, including epigastric discomfort, pain, nausea, vomiting, dysphagia, weight loss, or anorexia. During surveillance colonoscopy for CD, concurrent screening esophagogastroduodenoscopy (EGD) incidentally identified a 3-cm SET in the distal antrum. Notably, this lesion had not been observed on EGD or computed tomography (CT) conducted 2 years earlier at another hospital; this suggested that the SET had newly developed and enlarged to over 3 cm during that interval. Owing to its rapid growth and size, surgical resection was planned under strong clinical suspicion of GIST.

History of past illness

The patient had a history of CD, was diagnosed at 21 years of age, and was being treated with azathioprine (125 mg once daily), rifaximin (300 mg thrice daily), mesalazine (1000 mg twice daily), and rabeprazole (10 mg once daily). Five years prior, he had undergone fistulectomy for anal fissures and abscesses.

Personal and family history

There was no family history of inflammatory bowel disease, including CD or ulcerative colitis, or any family history of gastric cancer or other gastrointestinal malignancies.

Physical examination

At the time of admission, his vital signs and physical examination were unremarkable.

Laboratory examinations

Laboratory findings were unremarkable.

Imaging examinations

EGD revealed a 3-cm mucosal bulge with central ulceration on the posterior wall of the distal antrum (Figure 1A). Abdominal CT showed a hypervascular submucosal mass in the same location (Figure 1B).

Figure 1 Endoscopy and abdominal computed tomography findings. A: Endoscopic image showing a protruding lesion with central ulceration on the posterior wall of the distal gastric antrum; B: Axial contrast-enhanced computed tomography image showing a well-defined, hypervascular subepithelial lesion (orange arrowhead) along the posterior wall of the distal gastric antrum.

FINAL DIAGNOSIS

Immunohistochemical staining of the resected specimen showed negativity for CD117, DOG1, and CD34, effectively excluding GIST and arguing against an inflammatory fibroid polyp. The lack of CD1a expression, together with CD68positive histiocytes and only focal S100 reactivity, favored an inflammatory granulomatous process rather than Langerhans cell histiocytosis, gastrointestinal schwannoma, or granular cell tumor. Histopathological examination revealed chronic active gastritis with ulceration and non-caseating granulomas (hematoxylin–eosin stain, Figure 2). Together with the clinical context of CD, these findings indicated UGI involvement of CD presenting as a gastric SET (Table 1).

Figure 2 Histologic findings of a gastric subepithelial tumor-like lesion. Histopathological image showing a well-formed non-caseating granuloma composed of epithelioid histiocytes and surrounding lymphocytes, with marked infiltration of chronic inflammatory cells including plasma cells, findings consistent with upper gastrointestinal involvement in Crohn’s disease. Adjacent normal gastric glands are also observed (hematoxylin and eosin stain, × 100).

Table 1 Immunohistochemistryguided differential diagnosis of a gastric subepithelial lesion in the presented case.

Entity	Prototypical IHC profile	Findings in the presented case	Interpretation
GIST	KIT (CD117)+, DOG1+, often CD34+	KIT (CD117)-, DOG1-, CD34-	Effectively rules out GIST
Gastrointestinal schwannoma	Diffuse S100+ (± SOX10+); CD34 usually negative	Focal S100 positivity; SOX10 staining not performed	Not supportive of schwannoma
IFP	CD34+; KIT (CD117)/DOG1-; may harbor PDGFRA mutation	CD34-	Argues against IFP
GCT	Diffuse S100+; SOX10+; CD68+ in tumor cells	Focal S100 positivity; CD68 highlights non-neoplastic histiocytes	Pattern not compatible with GCT
Leiomyoma	SMA+, desmin+, hcaldesmon+; KIT (CD117)/DOG1-	No features of a smooth muscle tumor; SMA/desmin staining not performed	Unlikely
LCH	CD1a+, Langerin (CD207)+, S100+	CD1a-; Langerin (CD207) staining not performed; focal S100 positivity	Rules out LCH
Upper gastrointestinal Crohn’s disease	Noncaseating granulomas; CD68+ histiocytes; typically CD1a-	Chronic active gastritis with ulceration and noncaseating granulomas; CD68+ histiocytes; CD1a-	Favored diagnosis

IHC: Immunohistochemistry; GIST: Gastrointestinal stromal tumor; IFP: Inflammatory fibroid polyp; GCT: Granular cell tumor; LCH: Langerhans cell histiocytosis.

TREATMENT

Laparoscopic wedge resection of stomach was commenced for diagnosis and treatment of gastric SET. Under general anesthesia, the patient was placed in the supine position. Three trocars (umbilical, right upper, and right middle) were inserted. The patient was then repositioned in the reverse Trendelenburg position, and laparoscopic exploration of the abdominal cavity was performed. The lesion was identified on the posterior wall of the distal antrum, with margins extending toward the greater curvature. Therefore, in preparation for wedge resection, the vessels surrounding the lesion were dissected and ligated using Hem-o-lok clips (Teleflex Medical, United States) and the LigaSure vessel-sealing system (Medtronic, United States). To avoid injury to the pyloric sphincter and prevent lesion rupture, minimal margins were obtained. Subsequently, a wedge resection was performed using the Signia stapler (Medtronic, United States) (Figure 3). The patient was allowed to drink water on postoperative day 1, and a soft diet was initiated on postoperative day 2.

Figure 3 Intraoperative images of laparoscopic wedge resection for a gastric subepithelial tumor. A: Wedge resection of a subepithelial tumor in the distal gastric antrum using a Signia stapler (Medtronic, United States); B: Laparoscopic view of the gastric wall after completion of wedge resection; C: Intraoperative image showing the resected subepithelial tumor placed in a retrieval bag.

OUTCOME AND FOLLOW-UP

The patient was discharged on postoperative day 4 without complications. One week after discharge, the histopathology results were reviewed in the outpatient clinic, and it was explained to the patient that the gastric SET represented a form of UGI involvement of CD. The patient has since been followed by the Department of Gastroenterology for ongoing medical management and surveillance of CD. At the time of writing this report, the patient had remained diseasefree for 36 months postoperatively, with surveillance EGD showing no evidence of recurrent UGI involvement of CD or any gastric SETlike lesion.

DISCUSSION

UGI involvement in CD is relatively rare, reported in approximately 0.5%-4% of all patients with CD[5]. However, the incidence is considerably higher in pediatric and adolescent populations, with rates as high as 30%-50%[6]. The diagnosis of UGI involvement in CD generally follows the same criteria as those for CD elsewhere in the gastrointestinal tract, and it relies on a combination of clinical symptoms, endoscopic findings, and histopathological features, as outlined in Table 2[7]. However, when diagnosing UGI involvement, greater emphasis is placed on specific endoscopic characteristics and careful differential diagnosis, and histological identification of non-caseating granulomas plays a more decisive role than it does in typical presentations of CD[8]. In the present case, although the patient underwent surgical resection of a presumed SET, the final diagnosis of UGI involvement in CD was confirmed based on the presence of non-caseating granulomas on pathological examination (Figure 2).

Table 2 Clinical, endoscopic, and histopathological features and differential diagnoses of upper gastrointestinal involvement of Crohn’s disease.

Category	Key features/findings
Clinical symptoms	Epigastric discomfort, epigastric pain, vomiting, dysphagia, weight loss, anorexia
Endoscopic findings	Aphthous ulcers, linear ulcers, cobblestone appearance of the mucosa, erosions, esophageal stricture, gastric outlet obstruction, duodenal stricture
Histopathological features	Noncaseating granulomas, chronic active inflammation, lymphoid follicular hyperplasia
Differential diagnoses	Esophagus-reflux esophagitis, eosinophilic esophagitis, viral esophagitis, tuberculous esophagitis, Stomach-Helicobacter pylori gastritis, NSAID-induced gastritis, tuberculous gastritis, Ménétrier’s disease, gastric lymphoma, Duodenum-peptic ulcer disease, celiac disease, tuberculous duodenitis, Brunner’s gland hyperplasia, duodenal lymphoma

NSAID: Nonsteroidal antiinflammatory drug.

As noted earlier, UGI involvement in CD occurs more frequently in younger patients than in older individuals. Given the rising incidence of CD and the observed trend toward earlier onset, the prevalence of UGI involvement is also expected to increase[6,9]. Nevertheless, major societies such as the European Crohn’s and Colitis Organization and the American Gastroenterological Association are yet to establish formal guidelines for routine UGI endoscopic surveillance in patients with CD[10,11]. In this case, follow-up UGI endoscopy was performed 2 years after the diagnosis of CD because the patient exhibited no UGI symptoms. However, if annual surveillance endoscopy had been conducted irrespective of symptom presence, UGI involvement might have been identified at an earlier stage, possibly presenting as a different type of lesion before progressing to an SET > 3 cm.

Given the anticipated increase in UGI involvement in CD, there is a clear need to develop specific and standardized guidelines for UGI endoscopic surveillance, particularly for younger patients. Such guidelines are essential for preventing complications and ensuring early detection of UGI manifestations in this vulnerable population.

Limitations

Endoscopic ultrasonography (EUS) is highly useful for evaluating SETs as it allows assessment of the layer of origin, lesion margins, homogeneity, echogenicity, surrounding invasion, lymphadenopathy, and vascularity using Doppler[3]. These features are instrumental in distinguishing between benign and malignant SETs and estimating the histological nature of the lesion[3]. In patients with CD, EUS can reveal characteristic findings such as bowel wall thickening, loss of normal layer structure, hypoechoic or hyperechoic lesions, regional lymphadenopathy, fistulas, and abscesses[12]. Such findings are valuable not only for monitoring therapeutic response and evaluating complications but also for differentiating CD from ulcerative colitis or other mass-forming lesions, such as SETs[12]. Therefore, when SET-like lesions are detected on UGI endoscopy in patients with CD, EUS should be proactively performed to clarify the differential diagnosis. Unfortunately, the absence of preoperative EUS evaluation in the present case was a limitation.

In summary, this case illustrates a rare presentation of UGI CD as a rapidly enlarging gastric SET requiring surgical resection in a young patient with established CD. The absence of symptoms and lack of preoperative EUS contributed to delayed recognition, leading to surgery under the suspicion of GIST. This highlights the limitations of symptom-based surveillance and underscores the need for heightened clinical awareness of atypical manifestations of CD. Routine upper endoscopic surveillance and early application of adjunctive tools such as endoscopic ultrasonography should be considered in the long-term management of young patients with CD. Incorporating structured protocols for UGI monitoring into future clinical guidelines may facilitate earlier diagnosis, reduce misdiagnosis, and prevent unnecessary surgical interventions.

CONCLUSION

This case highlights a rare presentation of UGI CD as a gastric SET, in a young patient without UGI symptoms, underscoring the need to include UGI involvement in the differential diagnosis of gastric SETs in patients with established CD. Early application of diagnostic modalities such as endoscopic ultrasonography and structured upper endoscopic surveillance may support timely and accurate diagnosis and help prevent unnecessary surgical interventions. Further research is warranted to establish evidence-based guidelines for routine UGI monitoring in CD.

ACKNOWLEDGEMENTS

The author thanks Dr. Hyun Dong Chae at the Catholic University of Daegu for advice.