Major and Minor Duodenal Papilla Neuroendocrine Tumors in Type 1 Neurofibromatosis: Case Report

Excerpt

Type 1 neurofibromatosis (NF1), or von Recklinghausen disease, is one of the most common autosomal-dominant disorders with an incidence of 1 in every 2500 to 3000 births. NF1 is caused by a germline mutation in NF1 tumor suppressor gene located on chromosome 17q11.2. The NF1 gene encodes neurofibromin, a cytoplasmic protein which plays a fundamental role in negative regulation of the Ras cellular proliferation pathway. Therefore, patients with NF1 are at higher risk of developing various tumors, such as neurofibromas, neurofibrosarcomas, stromal tumors, neuroendocrine tumors, and gliomas [1‐3]. About 5–25 % of patients with NF1 have gastrointestinal manifestations such as neurofibromas, gastrointestinal stromal tumors (GISTs) of the small bowel, and periampullary neuroendocrine tumors (NETs); however, only 5 % of them have been reported as symptomatic [4, 5]. …