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Periampullary and Duodenal Neoplasms in Neurofibromatosis Type 1: Two Cases and an Updated 20-Year Review of the Literature Yielding 76 Cases

  • Review Article
  • Published:
Journal of Gastrointestinal Surgery Aims and scope

Abstract

Background

Patients with neurofibromatosis type 1 (NF1) are at increased risk to develop tumors throughout the gastrointestinal tract, including neuromas, gastrointestinal stromal tumors (GIST), and periampullary somatostatin-rich carcinoids. Here, we briefly describe two male patients with NF1 and review the recent literature on this topic.

Methods

Databases for PubMed and MEDLINE were searched for English-language articles since 1989 using a list of keywords, as well as references from review articles.

Results

The results generated by the search yielded 50 articles and 74 cases. Patients most commonly presented with jaundice, weight loss, GI bleeding, or anemia. The mean age at presentation was 47.9 years, with 59% of patients being female. Mean tumor size was 3.8 cm (range 0.9–27 cm). Tumor location was the duodenum (60%), ampulla (31%), pancreas (5%), or bile duct/gallbladder (4%). Tumor type was reported as somatostatinoma (40%), GIST (34%), adenocarcinoma (8%), carcinoid (6%), neurofibroma (5%), schwannoma (4%), or gangliocytic paraganglioma (3%). Treatment included classic Whipple procedure (42%), local excision (25%), pylorus-preserving pancreaticoduodenectomy (17%), and other resection (6%). Mean follow-up was 31 months postresection (range 0–99 months): 75% of patients were alive with no evidence of disease.

Conclusions

These results underscore the importance of a thorough evaluation for tumors in NF1 patients with gastrointestinal symptoms, as well as subsequent surgical management when findings suggest a tumor in the periampullary region, as resection remains the mainstay of treatment.

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Relles, D., Baek, J., Witkiewicz, A. et al. Periampullary and Duodenal Neoplasms in Neurofibromatosis Type 1: Two Cases and an Updated 20-Year Review of the Literature Yielding 76 Cases. J Gastrointest Surg 14, 1052–1061 (2010). https://doi.org/10.1007/s11605-009-1123-0

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