A rare case presentation of neurofibromatosis type 1 with multiple gastrointestinal stromal tumors: a case report

Abstract

Neurofibromatosis type 1 (NF1), a hereditary cancer predisposing syndrome is an autosomal dominant disorder. Gastrointestinal stromal tumor (GIST) is the most prevalent non-neurological tumor in these individuals. In NF1-associated GIST, KIT and platelet-derived growth factor receptor α (PDGFRA) mutations might not be present, and Imatinib may not be effective. Surgical resection is the first-line treatment. The primary aim was to include the possibility of rare tumors including GIST in neurofibromatosis patients in the differential diagnosis of GIT pathology/presentation. A 50-year-old male with neurofibromatosis came with complaints of dull aching abdominal pain and on further investigation was found to have lesions in the distal small bowel, suspicious of nerve sheath tumors, in abdominal computed tomography. A laparotomy was performed and the jejunum containing nodular lesions was resected and pathologically diagnosed as GIST. The patient was then started on Imatinib. At the 6-month follow-up, no tumor recurrence was visible. The rare and unusual location of multiple GIST in neurofibromatosis patients underscores its importance in differential diagnosis, and our case report on the patient's therapy and the clinical outcome could aid in patient care.