Metastatic Pancreatic Gastrinoma, Severe Primary Hyperparathyroidism, And Adrenal Cushing Syndrome In A Patient With Multiple Endocrine Neoplasia Type 1: An Unusual Presentation And Review Of The Literature

ABSTRACT Objective: Multiple endocrine neoplasia type 1 (MEN1) has an estimated incidence in the general population of 0.01 to 2.5 cases per 1,000 individuals. Here we report on the case of a 36-year-old female patient with some uncommon aspects of MEN1. Methods: The patient was admitted with primary hyperparathyroidism (PHPT) and suspicion of parathyroid carcinoma, demanding additional exams. Abdominal resonance imaging revealed a left adrenal mass, three pancreatic tumors, and hepatic lesions. Diagnostic work-up revealed hypergastrinemia and autonomous production of corticosteroids. Results: The patient was subjected to multiple surgeries: subtotal parathyroidectomy, left adrenalectomy, subtotal pancreatectomy associated with enucleation of a tumor lesion in the pancreatic head, and resection of a hepatic metastasis. The patient's DNA sequencing analysis revealed a frameshift mutation in exon 3 of the MEN1 gene. Her daughter was found to be affected by the same mutation. Conclusion: This case presents three uncommon aspects in MEN1: (1) suspicion of PHPT due to parathyroid carcinoma, (2) the presence of a functioning adrenal adenoma producing Cushing syndrome, and (3) pancreatic location and malignancy of the gastrinoma. Abbreviations: MEN1 = multiple endocrine neoplasia type 1; PHPT = primary hyperparathyroidism; PTH = parathyroid hormone