Melena as the first sign of multifocal small bowel gastrointestinal stromal tumors in a patient with neurofibromatosis type 1: A case report

A 64-year-old man with neurofibromatosis type 1 (NF1) presented with melena and anemia. Initial endoscopy findings were inconclusive. Computed tomography and enteroscopy revealed active bleeding from a duodenal lesion. Laparotomy identified a bleeding duodenal tumor and multiple small bowel tumors. Surgical resection was performed for the bleeding and the largest tumors, whereas other smaller tumors were preserved. Pathological examination confirmed multiple low-risk gastrointestinal stromal tumors (GISTs; spindle cell type, CD117/DOG-1-positive, low mitotic rate). No adjuvant therapy was indicated. This case underscores the importance of considering multifocal small bowel GISTs in patients with NF1 with obscure gastrointestinal bleeding. Early imaging, enteroscopy, and surgical management are crucial for diagnosis and treatment. Surveillance remains essential due to the potential for recurrence.