A Case of Multiple Gastrointestinal Stromal Tumors of the Small Bowel in a Patient with Neurofibromatosis Type 1

Abstract

Purpose: Gastrointestinal stromal tumors are rare tumors of the gastrointestinal tract that arise from primary mesenchymal cells. However, in patients with type 1 neurofibromatosis (NF-1), GISTs have been reported to occur with increased tendency. NF-1 is a neurocutaneous disorder that involves neuroectodermal and mesenchymal derivatives, and it is associated with GISTs of the small bowel. Clinical behaviors of GIST include abdominal pain, intestinal obstruction, and acute or occult gastrointestinal bleeding. We herein report a case of a patient with NF-1 with acute gastrointestinal bleeding from multiple GISTs of the small bowel. Case Report: A 57 year-old male with known NF-1 presented with melena and anemia. His past medical history was significant for gastric angiectasias. On presentation, he had evidence of neurofibromas on his face and upper extremities. He denied any abdominal pain. Laboratory analysis showed severe anemia with a hemoglobin of 9 g/dl. An upper endoscopy revealed a non-bleeding mass in the second to third portion of the duodenum. A subsequent colonoscopy and capsule endoscopy were unremarkable. Biopsy of the duodenal mass demonstrated a spindle-cell neoplasm with positive c-kit protein, suggestive of a GIST. Computed tomography revealed multiple masses as large as 3 × 4 cm in the small bowel. Exploratory laparatomy found multiple duodenal and jejunal tumors with biopsies that were consistent with GIST of low risk ( < 2/50 HPF mitotic index). The patient received a prepyloric-preserving Whipple resection. The rest of his hospital course was uneventful. His H/H stabilized, and he was discharged. Conclusion: GISTs of the small bowel are very rare and may present with massive bleeding. Particularly in patients with type 1 neurofibromatosis with gastrointestinal bleeding, it should be considered as part of the differential.