Journal of Gastrointestinal Surgery

, Volume 14, Issue 6, pp 1052–1061 | Cite as

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

  • Daniel Relles
  • Jennie Baek
  • Agnieszka Witkiewicz
  • Charles J. Yeo
Review Article



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.


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.


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.


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.


Neurofibromatosis Periampullary neoplasm Gastrointestinal stromal tumor Carcinoid Somatostatinoma 


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Copyright information

© The Society for Surgery of the Alimentary Tract 2009

Authors and Affiliations

  • Daniel Relles
    • 1
  • Jennie Baek
    • 1
  • Agnieszka Witkiewicz
    • 2
  • Charles J. Yeo
    • 1
    • 3
  1. 1.Department of SurgeryThomas Jefferson University and the Jefferson Pancreas, Biliary, and Related Cancer CenterPhiladelphiaUSA
  2. 2.Department of PathologyThomas Jefferson University and the Jefferson Pancreas, Biliary, and Related Cancer CenterPhiladelphiaUSA
  3. 3.Department of SurgeryJefferson Medical CollegePhiladelphiaUSA

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