Periampullary and duodenal neoplasms in von recklinghausen's neurofibromatosis Type-1: A case report and updated review of the literature yielding 75 cases

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Introduction Patients with Von Recklinghausen‘s neurofibromatosis type-1 (NF1) are at increased risk for developing tumors throughout the gastrointestinal tract, including neuromas, gastrointestinal stromal tumors, and periampullary somatostatin-rich carcinoids. Methods We describe a case of a 43 year old male with a history of NF1 who was treated with a pylorus-preserving pancreaticoduodenectomy for a bleeding GIST in the second portion of the duodenum. Databases for PubMed and MEDLINE were searched for English language articles since 1989 using a list of keywords (neurofibromatosis, periampullary, gastrointestinal stromal tumor, gallbladder, pancreatic, bile duct, and ampulla) in addition to references from relevant review articles. The results generated by the search yielded 45 articles including 75 cases. Results Patients most commonly presented with jaundice, weight loss, GI bleed, and anemia. The mean age at presentation was 50.4 years (range 11-74 years), with 60% of patients being female. Mean tumor size was 4.0 cm (range 0.9 – 27 cm). At time of presentation, 70% of tumors had metastases. Tumor location was as follows: the duodenum (64%), ampulla (22%), pancreas (10%), bile duct/gallbladder (4%). Tumor type was as follows: GIST (43.6%), somatostatinoma (29%), adenocarcinoma (12.8%), carcinoid (5.3%), neurofibroma (3%), gangliocytic paraganglioma and schwannoma (2% each). At a mean follow up of 33 months post-resection (range 0 – 99 months), 75% of patients were alive with no evidence of disease.


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Department of Surgery, Department of Surgery Faculty

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