Multiple Endocrine Neoplasia Type 1: Evolving Diagnostic Strategies and Therapeutic Approaches in the Era of Precision Medicine

Multiple endocrine neoplasia type 1 (MEN1) is a rare, autosomal dominant disorder characterized by tumors in the parathyroid glands, gastroenteropancreatic system, and pituitary. This review synthesizes current knowledge on MEN1, from its molecular pathogenesis involving loss-of-function MEN1 gene mutations to its diverse clinical manifestations. We discuss the high penetrance of primary hyperparathyroidism and the significant morbidity associated with neuroendocrine tumors, including gastrinomas and nonfunctional pancreatic lesions. The review outlines a comprehensive diagnostic approach that integrates genetic testing for early identification of at-risk individuals, advanced imaging techniques like ⁶⁸Ga-DOTATATE PET/CT for tumor localization, and emerging liquid biopsy biomarkers for enhanced detection and monitoring. We also detail contemporary management strategies, emphasizing the need for a multidisciplinary team to navigate complex surgical and medical therapies. The article concludes by highlighting future directions, including the potential for CRISPR gene editing, artificial intelligence in diagnostics, and next-generation therapeutics to improve personalized care and long-term outcomes for MEN1 patients.