Abhishek Ravinuthala, MD, Brian Boulay, MD University of Illinois at Chicago, Chicago, IL
Introduction: Gastrointestinal stromal tumors (GISTs) are mesenchymal masses that occur throughout the GI tract, predominantly in the stomach. GISTs typically present with symptoms of early satiety, vomiting, and signs of GI bleeding. They are normally sporadic but can be associated with certain hereditary conditions including Neurofibromatosis type 1 (NF-1). Here we describe the case of a patient presenting with small bowel obstruction and perforation secondary to GIST related inflammation.
Case Description/Methods: A 46 year old man with a history of NF-1 and chronic constipation presented with worsening abdominal pain and distention for several days. He denied nausea or emesis but endorsed sharp, persistent abdominal pain. Physical examination showed diffuse abdominal distention and tenderness without guarding or rebound tenderness, as well as diffuse cutaneous neurofibromas. Serologic studies included normal WBC count and lactic acid level. CT abdomen/pelvis with IV contrast revealed small bowel obstruction with a transition point in the ileum and diffuse lymphoid tissue thickening along the mesenteric roots. The patient failed to improve with conservative management via NG tube.
Exploratory laparotomy was performed, revealing a thickened hemorrhagic mesentery in the central portions of the small bowel and also a large adhesive band leading to an internal hernia. A focal perforation was noted in the mid-jejunum, and partial small bowel resection was performed.
Pathology report confirmed the presence of two tumors measuring 0.8 cm and 0.2 cm within the jejunal wall at the junction of the mesentery, associated with serositis, a mural abscess and focal necrosis, and fibrinous adhesions. Tumor cells were positive for S100 and SOX10, as well as CD117 and DOG1, consistent with GIST. The patient recovered uneventfully, and subsequent video capsule enteroscopy revealed no findings of additional small bowel GISTs.
Discussion: The most common presentation of small bowel GISTs is hemorrhage and anemia. Rarely, GISTs may present with small bowel obstruction. With sporadic GISTs the obstruction is typically associated with a large tumor causing mechanical obstruction or intussusception. However, NF-1 patients may have GIST tumors which are small and multifocal, causing intense localized inflammatory changes which can result in bowel obstruction. Thus it is an important diagnosis to consider in patients with new onset small bowel obstruction, especially in patients with predisposing conditions to GIST such as NF-1.
Disclosures:
Abhishek Ravinuthala indicated no relevant financial relationships.
Brian Boulay indicated no relevant financial relationships.
Abhishek Ravinuthala, MD, Brian Boulay, MD. A0670 - Gastrointestinal Stromal Tumor Presenting as Small Bowel Obstruction in the Setting of Neurofibromatosis Type 1, ACG 2022 Annual Scientific Meeting Abstracts. Charlotte, NC: American College of Gastroenterology.
