Multiple Endocrine Neoplasia Type 1 (Wermer Syndrome)

• The earliest and most common presentation of MEN type 1 (Wermer Syndrome):
  • Is primary hyperparathyroidism (PHPT):
    • Develops in approximately 80% to 100% of patients:
      • By age 40 years
• Patients with MEN type 1 also are predisposed to the development of:
  • Pancreatic neuroendocrine tumors
  • Pituitary adenomas
  • Less frequently:
    • Skin angiomas
    • Lipomas
    • Adrenocortical tumors
    • Neuroendocrine tumors of the:
      • Thymus
      • Bronchus
      • Stomach
• MEN type 1 has been shown to result from:
  • A germline mutation in a tumor suppressor gene:
    • Called MEN1 gene:
      • Located on chromosome 11q12-13:
        • That encodes Menin:
          • A protein that is postulated to interact with:
            • The transcription factors JunD and nuclear factor-κB in the nucleus
            • In addition to replication protein A and other proteins
• Pre-symptomatic screening for mutation carriers for MEN type 1:
  • Is difficult because generally MEN1 mutations result in a:
    • Nonfunctional protein:
      • That are scattered throughout the translated nine exons of the gene
• MEN1 mutations also have been found in:
  • Kindred’s initially suspected to represent isolated familial HPT
• Screening for mutation carriers for MEN type 1:
  • Has a very high detection rate greater than 94%, and is used in Sweden for patients with:
    • PHPT with a first-degree relative with a major endocrine tumor, age of onset is less than 30 years and / or if multiple pancreatic tumors / or when parathyroid hyperplasia is detected

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