Case Report: Duodenal gastrointestinal stromal tumor misdiagnosed as tumor located on the major duodenal papilla leading to fatal gastrointestinal bleeding in a child

Abstract

Background: Although gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors of the gastrointestinal tract, they are rare in children, particularly those located on the duodenum. Here, we present an interesting pediatric case involving a 13-year-old boy who experienced gastrointestinal hemorrhage, he was misdiagnosed with a tumor located on the major duodenal papilla and was ultimately confirmed to be duodenal GISTs.

Case presentation: A 13-year-old boy presented to a local hospital with fatigue and melena. Gastroscopy suggested a tumor located at the major duodenal papilla, and the patient was referred to our hospital for surgical evaluation. Upon further investigation and surgical exploration, the diagnosis was revised to a duodenal GIST with surface ulceration and active bleeding. The ulcer's morphology and location mimicked the appearance of the major duodenal papilla, leading to the initial diagnostic error.

Conclusions: Duodenal GISTs in pediatric patients often present asymptomatically but can manifest with severe complications such as fatal gastrointestinal bleeding. The tumor's morphology and location can obscure the major papilla, complicating preoperative diagnosis and influencing surgical decision-making. Comprehensive preoperative evaluation and careful intraoperative exploration are critical for accurate diagnosis and optimal management.

Keywords: child; duodenal gastrointestinal stromal tumor (dGIST); fatal bleeding; gastrointestinal hemorrhage or bleeding; misdiagnose analysis.

Figure 1

Preoperative CT scan, the tumor is located near the major duodenal papilla and is closely related to the pancreas (red circle).

Figure 2

(A) The tumor originated from mesangial margin of the intestinal mucosa and grew endogeneously. (B) The ulcer on the surface of the tumor appeared indistinguishable from the opening of the major duodenal papilla.

Figure 3

Immunohistochemical examination revealed positive staining for CD34 (A:×10), CD117 (B:×10) and DOG1 (C:×10). The Ki-67 proliferation index was approximately 2% (D:×10).

Figure 4

Postoperative follow-up data of the patient: One month after surgery, an upper gastrointestinal barium contrast study in the anteroposterior (A) and posterior (B) views demonstrated smooth passage of the contrast agent without signs of obstruction or leakage, with good duodenal peristalsis. At six months postoperatively, esophagogastroduodenoscopy revealed smooth duodenal mucosa without evidence of ulceration or tumor (C) The mucosal folds in the surgical area of the descending duodenum appeared nodular (D).