Small intestine gastrointestinal stromal tumor and malignant peripheral nerve sheath tumor in a patient with neurofibromatosis type 1: A case report

Abstract

AbstractThe clinical manifestation of neurofibromatosis type 1 (NF1) predisposes patients to the development of a variety of neoplasms, such as neurofibroma, malignant peripheral nerve sheath tumors (MPNSTs), optic pathway glioma, gastrointestinal stromal tumors (GISTs), and pheochromocytoma. We report the case of a patient with NF1 who underwent surgery for MPNST of the right upper abdominal wall in which a GIST arising in the jejunum was found incidentally. Two years later, the patient underwent surgical resection of a GIST in the small intestine owing to clinical manifestation of gastrointestinal hemorrhage. Further imaging examination is required for symptomatic plexiform neurofibroma to distinguish between an MPNST and other benign subcutaneous tumors. Patients with NF1 should undergo periodic computed tomography image surveillance because they are of increased risk of developing GISTs. Standard therapy for NF1‐GIST is surgery, and patients should be carefully followed up after tumor resection.