Multiple endocrine neoplasia type 1 (MEN1): recommendations and guidelines for best practice

Area of Science:

• Endocrinology
• Genetics
• Oncology

Background:

• Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder.
• MEN1 is characterized by parathyroid, duodenopancreatic neuroendocrine, and pituitary tumors.
• MEN1 mutations in the MEN1 gene lead to high morbidity and mortality without early intervention.

Purpose of the Study:

• To develop evidence-based clinical recommendations for MEN1 assessment and management.
• To provide guidance for clinicians, patients, and stakeholders involved in MEN1 care.
• To address the lack of consensus on optimal MEN1 approaches.

Main Methods:

• Systematic literature reviews and meta-analysis.
• Delphi approach for consensus development.
• Multidisciplinary expert group convened.

Main Results:

• 55 clinical recommendations were developed.
• Recommendations cover assessment and management strategies for MEN1.
• Guidelines are applicable to both adult and pediatric patients.

Conclusions:

• The developed recommendations aim to optimize MEN1 patient care.
• Early detection and intervention are crucial for mitigating MEN1 morbidity and mortality.
• Standardized guidelines will improve the management of this rare endocrine neoplasia syndrome.