Abstract | November 17, 2023
Multiple Endocrine Neoplasia: A Typical Case with Atypical Pathology
Learning Objectives
- Upon completion of this lecture, learners should be better prepared to describe typical and atypical presentations of MEN 1 syndrome.
Introduction: Multiple Endocrine Neoplasia 1 (MEN1) is an autosomal dominant disorder of menin expression caused by a loss of function mutation of the MEN1 gene on chromosome 11. (1) MEN 1 syndrome often presents as primary hyperparathyroidism, endocrine pancreatic tumors (most commonly gastrinoma), and pituitary adenomas. (1)
Case presentation: A 58-year-old man with known MEN1, primary hyperparathyroidism status post total parathyroidectomy, and pancreatic tumor is admitted one day after an esophagogastroduodenoscopy complaining of intractable nausea and vomiting with coffee-ground emesis. Physical exam reveals an ill-appearing man who looks older than his stated age. Patient appears volume depleted, emaciated, and has significant temporal wasting. Gastric biopsy from the day prior demonstrates focal positivity of neuron specific enolase and gastrin, consistent with a working diagnosis of gastrinoma. Lab results from one month prior demonstrated an elevated serum gastrin (56,874), chromogranin (4,138), and VIP (251.8), suggestive of possible VIPoma. Patient had previously declined surgical intervention, but now elected to proceed with operative management. He underwent pancreatectomy, jejunostomy tube placement, celiac and mesenteric lymph node excision, and three wedge liver resections. Immunohistochemical staining of pancreatic neuroendocrine tissue demonstrated strong positivity for gastrin, pancreatic polypeptide (PP), and scattered positivity for vasoactive intestinal peptide (VIP), consistent with a diagnosis of PPoma and VIPoma.
Final Diagnosis: well-differentiated pancreatic endocrine neoplasm with evidence of PPoma, VIPoma, and adenocarcinoma.
Management/Outcome: Operative course was uncomplicated. Immediate postoperative course was complicated by intrahepatic and perihepatic abscesses positive for Klebsiella, Enterococcus faecalis, yeast, and Streptococcus agalactiae treated with rifampin and Augmentin. Protracted post-operative course was complicated by episodes of hypo and hyperglycemia requiring hospitalization in the setting of diabetes secondary to his pancreatectomy. At three-year follow-up, there was no evidence of pancreatic neuroendocrine tumor recurrence. The patient expired four years after initial presentation, likely related to a primary gastric carcinoid tumor.
This case presentation illustrates the presenting characteristics of PPoma and VIPoma and their similarities to other pancreatic neuroendocrine tumors. This underscores the importance of a broad differential diagnosis with careful consideration of each possibility.
References and Resources
- Al-Salameh A, Cadiot G, Calender A, Goudet P, Chanson P. Clinical aspects of multiple endocrine neoplasia type 1. Nature reviews Endocrinology. 2021;17(4):207-224. doi:10.1038/s41574-021-00468-3
