Gastrointestinal stromal tumours (GIST) of the jejunum in a patient with neurofibromatosis type 1 (von Recklingshausen's disease)

Case Report: A 72-year-old female patient with known neurofibromatosis type 1 was admitted to the hospital with symptomatic anaemia and a history of melaena. Upper and lower endoscopy did not show any signs of bleeding. Ultrasound and computed tomography revealed an abdominal mass. The histological analysis of a US-guided puncture showed a mesenchymal tumour with spindle-shaped appearance. Laparotomy revealed two jejunal tumours which could be classified as gastrointestinal stromal tumours (GIST) by immunohistochemistry. Conclusion: Patients with neurofibromatosis type 1 have an increased risk of developing gastrointestinal tumours including rare types such as GIST. Because the localisation in the small intestine by conventional endoscopy can be difficult, further diagnostic means such as ultrasound, computed tomography or possibly capsule endoscopy should be considered.