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Open Access Case report

Gastrinoma and neurofibromatosis type 2: the first case report and review of the literature

Sara Massironi1*, Alessandra Zilli1, Roberta Elisa Rossi12, Federica Cavalcoli12, Dario Conte12 and Maddalena Peracchi2

Author Affiliations

1 Gastroenterology and Endoscopy Unit, Fondazione IRCCS Ca’ Granda - Ospedale Maggiore Policlinico, Università degli Studi di Milano, Via F. Sforza 35, Milano 20122, Italy

2 Department of Pathophysiology and Organ Transplant, Fondazione IRCCS Ca’ Granda - Ospedale Maggiore Policlinico, Università degli Studi di Milano, Milan, Italy

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BMC Gastroenterology 2014, 14:110  doi:10.1186/1471-230X-14-110

Published: 24 June 2014

Abstract

Background

Gastroenteropancreatic neuroendocrine tumors have occasionally been described in association with neurofibromatosis type 1, whereas an association with neurofibromatosis type 2 has never been reported.

Case presentation

This report refers to an Italian 69 year old woman with neurofibromatosis type 2 and a pancreatic gastrinoma. In the past she had encephalic meningiomas, a tongue schwannoma and bilateral acoustic neurinomas. She presented with weight loss and a long-term history of diarrhea, responsive to proton pump inhibitors. Upper gastrointestinal endoscopy revealed peptic ulcer of the duodenal bulb. Blood tests were normal, except for the elevation of plasma gastrin (1031 pg/ml; reference value <108) and chromogranin A (337 U/L; reference value <36). After secretin stimulation testing, the plasma gastrin level rose to 3789 pg/ml. The abdomen magnetic resonance imaging and gallium68-DOTATOC positron emission tomography scan demonstrated the presence of a 1.2 x 2 cm lesion in the pancreatic head and a liver metastatis. Pancreatic endoscopic ultrasound with fine needle aspiration revealed cytomorphologic features suggestive of pancreatic gastrinoma. Brain magnetic resonance showed a pituitary microadenoma. There was no evidence of hyperparathyroidism. The genetic test for multiple endocrine neoplasia type 1 syndrome mutation was negative.

Conclusion

This report focuses on the first case of coexistence of gastrinoma with neurofibromatosis type 2. Although the clinical relevance of this association remains to be determined, our case report will surely give cause for due consideration.

Keywords:
Gastrinoma; Neurofibromatosis type 2; Multiple endocrine neoplasia syndrome type 1; Neuroendocrine tumors; Zollinger Ellison syndrome