Update on the clinical management of multiple endocrine neoplasia type 1

Area of Science:

• Endocrinology
• Genetics
• Oncology

Background:

• Multiple Endocrine Neoplasia Type 1 (MEN1) is a genetic disorder predisposing individuals to tumors in endocrine glands.
• Clinical management guidelines for MEN1 were last updated a decade ago, necessitating a review of recent advancements.
• MEN1 significantly impacts patients' quality of life and incurs substantial financial burdens.

Purpose of the Study:

• To provide an overview of novel insights in the clinical management of MEN1 patients over the past decade.
• To highlight recent findings in diagnosis, surveillance, and treatment strategies for MEN1-associated tumors.
• To identify areas for future research to improve individualized patient care and outcomes.

Main Methods:

• Review of recent literature and clinical guidelines concerning MEN1 management.
• Analysis of diagnostic approaches, including genetic testing and clinical manifestations.
• Evaluation of current and emerging treatment strategies for primary hyperparathyroidism, neuroendocrine tumors (NETs), pituitary adenomas, and breast cancer in MEN1 patients.

Main Results:

• Mutation-negative patients with MEN1 manifestations show a different clinical course than mutation-positive patients.
• Subtotal parathyroidectomy is the preferred initial surgery for primary hyperparathyroidism; debates continue regarding timing and unilateral clearance.
• Duodenopancreatic, thymus, and lung NETs require individualized risk stratification; pituitary adenomas and breast cancer in MEN1 have specific management and screening recommendations.
• Early screening in the second decade of life is advisable due to pediatric manifestations.

Conclusions:

• Patient outcomes in MEN1 have improved, yet significant challenges remain.
• Individualized risk stratification and treatment are crucial for managing diverse MEN1-associated tumors.
• Future studies should focus on identifying predictors of tumor behavior and evaluating the efficacy of personalized interventions to enhance patient outcomes.