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

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.

Figure 1

Secretin stimulation test in the patient. Plasma gastrin levels were measured at -30 and 0 time, and 2, 5, 10, 15, 20 and 30 minutes after intravenous secretin infusion (Secrelux 2U/kg, Goldham-Bioglan, Zusmarhausen. Germany). The increase from 1031 to 3789 pg/ml was observed within ten minutes.

Figure 2

Gallium-68-DOTATOC PET. Gallium68 PET detected the presence of a nodular lesion of cm 1.2 x 2 in the pancreatic head and a suspected liver metastatic lesion.

Figure 3

Brain MR with contrast. This T1-weighted image detected multiple meningiomas enhancing intensely and homogeneously after administration of gadolinium.