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Multiple endocrine neoplasia type 1 (MEN1) syndrome is characterized by the presence of hyperplastic or neoplastic tumors in the parathyroid, pituitary, and gastroenteropancreatic endocrine tissues. The presence of lesions in at least two out of the three glands (pituitary, parathyroid, and pancreas) is indicative of MEN1 syndrome. Medullary thyroid carcinoma (MTC) is a type of tumor that originates from the parafollicular C cells of the thyroid gland. It is frequently found as part of MEN2 syndrome. MEN1 with MTC is a relatively uncommon occurrence. We report a rare case of MTC that later on developed parathyroid carcinoma, pituitary microadenoma, pancreatic neuroendocrine tumor (NET), and duodenal NET. The case was identified as part of MEN1 syndrome using exome sequencing and somatostatin receptor-based functional imaging Ga-DOTATATE positron emission tomography/computed tomography was employed for exploring theranostic strategy in the management of the patient.
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http://dx.doi.org/10.1055/s-0044-1791818 | DOI Listing |
Int J Mol Sci
August 2025
Department of Internal Medicine and Gastroenterology, Fondazione Policlinico Universitario Agostino, Gemelli IRCCS, Catholic University of Rome, 00168 Rome, Italy.
Pancreatic neuroendocrine tumors (pNETs) are rare malignancies, accounting for 1-2% of pancreatic cancers, with an incidence of ≤1 case per 100,000 individuals annually. Originating from pancreatic endocrine cells, pNETs display significant clinical and biological heterogeneity. Traditional classification based on proliferative grading does not fully capture the complex mechanisms involved, such as oxidative stress, mitochondrial dysfunction, and tumor-associated macrophage infiltration.
View Article and Find Full Text PDFScand J Gastroenterol
August 2025
Digestive Disease Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD, USA.
Backgrounds And Aims: No guidelines exist for gastric acid assessment (GAA) or endoscopic surveillance for patients with Multiple Endocrine Neoplasia Type 1-Zollinger-Ellison Syndrome (MEN1-ZES). We aimed to analyze how GAA via nasogastric tube (NGT) and esophagogastro-duodenoscopy (EGD) altered acid suppression therapy and identify pre-GAA factors associated with post-GAA medication changes to inform which patients benefit from GAAs and/or EGDs for surveillance.
Methods: We assessed the following data from patients at our institution with MEN1-ZES from 2004-2018: 1) pre-GAA gastrointestinal symptoms; 2) serum gastrin levels; 3) gastric acid output (GAO); 4) EGD findings; 5) post-GAA changes in acid suppressing medication.
J Clin Med
August 2025
Department of Nephrology, University of Crete, Voutes, 70500 Heraklion, Crete, Greece.
Multiple Endocrine Neoplasia type 1 (MEN1) is a rare autosomal dominant disorder caused by mutations in the MEN1 gene. Although primarily characterized by endocrine tumors, renal manifestations remain underreported. We report a three-generation family carrying a pathogenic mutation (c.
View Article and Find Full Text PDFClin Nucl Med
July 2025
Departments of Nuclear Medicine.
Less than 10% of primary hyperparathyroidism (PHPT) patients have supernumerary parathyroid glands. In a 52-year-old man with multiple endocrine neoplasia type 1 (MEN 1) syndrome with PHPT, integrated 18F-Fluorocholine PET/4D-CT (FCH PET/4D-CT) was done for localization of parathyroid adenoma. FCH PET/4D-CT revealed 5 culprit lesions (1 ectopic) along with FCH avid nonenhancing anterior mediastinal mass, possibly NET or thymoma.
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