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
July 2022 Parathyroid Awareness Month

#Arrangoiz #ParathyroidSurgeon #ParathyroidExpert #Hyperparathyroidism #PrimaryHyperparathyroidism #CancerSurgeon #EndocrineSurgery #Teacher #Surgeon #HeadandNeckSurgeon #SurgicalOncologist #ParathyroidAdenoma #Hypercalcemia #ElevatedCalciumLevels #Miami #MountSinaiMedicalCenter #MSMC #Mexico #Hialeah

Leave a Reply

Fill in your details below or click an icon to log in: Logo

You are commenting using your account. Log Out /  Change )

Twitter picture

You are commenting using your Twitter account. Log Out /  Change )

Facebook photo

You are commenting using your Facebook account. Log Out /  Change )

Connecting to %s