Giant Fundic Gland Polyps in a Rare Disease

Abstract

Our patient is a 39-yr-old previously healthy Hispanic female who complains of years of epigastric pain, acutely worsening over the past 2 weeks. She complained of 80lb weight loss, fatigue & intermittent diarrhea over the past 1.5 years. Otherwise review of systems was negative. Medications included omeprazole & ibuprofen prn. Family & social history were unrevealing. On physical examination, vitals were normal with palpable thyroid, mild tenderness over epigastrium with palpation. Lab tests revealed: Hemoglobin 2.1g/dL;hemocrit 8.7%. Multi-chemistry screen was remarkable for Ca 11mg/dL. EGD revealed multiple giant gastric polyps (15-40mm), thickened gastric folds without discrete mass or ulcerations (Figure 1&2). Histology of gastric polyp biopsies showed cystically dilated fundic glands lined by normal gastric epithelium, without evidence of dysplasia, consistent with fundic gland polyps. Colonoscopy was notable for a single diminutive tubular adenoma. Contrasted CT abdomen/pelvis was notable for a mass in the tail of pancreas measuring 1.6cm & portocaval mass measuring 7.8cm. Fasting serum gastrin level was >10000. EUS with FNA of pancreatic & portocaval mass/lymph node was performed with malignant cells of a well differentiated neuroendocrine tumor, low grade. Due to hyperparathyroidism, the patient underwent parathyroidectomy & partial thymectomy that revealed parathyroid adenoma. Our patient met criteria for multiple endocrine neoplasia type 1a with parathyroid tumor, metastatic pancreatic neuroendocrine neoplasm & Zollinger-Ellison syndrome. She was started on high-dose proton pump inhibitor & subcutaneous octreotide injections. Surgical oncology & tumor board consultation yielded decision to continue depot octreotide lifelong given metastatic disease. She underwent evaluation for pituitary tumors including prolactin & MRI of sella turcica, which were negative. Her epigastric pain & anemia improved on PPI and octreotide & will continue surveillance for pituitary tumors & GI tumor progression. Genetic testing revealed a pathogenic mutation in the MEN1 gene (c.1406_1413dupAGCCGTGG), confirming diagnosis of an index case of sporadic MEN1a. Detection of sporadic MEN1a requires a high degree of suspicion & should be considered in cases of epigastric pain, diarrhea with concomitant hyperparathyroidism. Previous association of giant fundic gland polyps & MEN1 has not been reported.Figure: Stomach.Figure: Giant fundic gland polyp.