[Multiple endocrine neoplasia syndroms. Type 1]

Area of Science:

• Endocrinology
• Genetics
• Oncology

Background:

• Multiple endocrine neoplasia (MEN) type 1, also known as Wermer syndrome, is an autosomal dominant inherited disorder.
• It is characterized by hyperplasia and/or neoplasia in parathyroid glands, pancreatic islets, pituitary, and other neuroendocrine organs.
• The syndrome arises from inactivating mutations in the germinative MEN 1 tumor suppressor gene, with over 95% of patients carrying this mutation.

Purpose of the Study:

• To review the latest understanding of MEN type 1 pathogenesis.
• To outline the clinical features, diagnostic methods, and treatment strategies for MEN type 1.
• To emphasize the importance of genetic analysis for early diagnosis, risk assessment, and family screening.

Main Methods:

• Literature review of current theories on MEN type 1 pathogenesis.
• Analysis of clinical peculiarities and diagnostic approaches.
• Discussion of treatment modalities and genetic testing implications.

Main Results:

• MEN type 1 involves early-onset, multifocal endocrine neoplasia, often preceded by organ hyperfunction and hormone excess.
• Genetic analysis is crucial for confirming diagnosis, identifying at-risk family members, and enabling early intervention.
• Multifocality, characteristic tumor combinations, and family history aid in clinical diagnosis.

Conclusions:

• Genetic diagnosis of MEN type 1 is essential for proactive management, including early detection, prevention, and timely treatment of neoplastic diseases.
• Screening relatives of diagnosed patients is vital for identifying carriers and mitigating cancer risk.
• This approach enhances early diagnostics and prevention of malignant neoplasia in MEN type 1 families.