MEN 1 Flashcards
How do MEN 1 occur?
Tumors result from Two-Hit Loss of Function at the MEN 1 Gene.
Meaning the other chromosome cannot suppress the tumor genes
How are Multiple Endocrine Neoplasia Type 1 acquired?
Familial 90%
Sporadic 10%
Which tumor suppressor protein is needed to prevent MEN 1
Menin
What is the most common MEN 1 tumor?
Parathyroid Hyperplasia 90%
multiple tumors*
What are the 3 most common types of MEN 1 tumors
Three P’s
Parathyroid Hyperplasia 90% (Hyperparathyroidism)
Pancreatic tumor
Pituitary tumors
What are examples of Non-Hormonal Tumors
Facial angiofibroma (85%) Truncal collagenoma (70%) Lipoma (30%) Leiomyoma (10%) Meningioma (5%?) Ependymoma (1%)
What are first signs see in patients with Parathyroid Hyperplasia?
Hypercalcemia
What are examples of Pacreatic Endocrine tumors?
Gastrinomas Insulinomas Glucagonamos VIPomas Somatostatinomas
What is the treatment of Parathyroid hyperplasia?
Parathyroidectomy
What are some examples of Non-classical tumors in MEN 1
Dermal tumors
Angiofibromas
Collagenomas
Lipomas
How MEN 2 occur?
Autosomal dominant mutation of RET proto-oncogene (just need one hit)
Once activated you now have this receptor forever that causes proliferation of cells
What kind of tumors occur with MEN Type 2A?
What is a definitive treatment
Medullary thyroid CA
Pheochromocytoma
Hyperparathyroidism
Total Thyroidectomy by 5-6 years old
What kind of tumors occur with MEN Type 2B
Medullary thyroid CA
Pheochromocytoma
Multiple neuromas
Marfanoid habitus
What are Pheochromocytomas?
Where do they mostly occur
tumors that secrete excess catecholamines (Epi or Epi/NE)
How do Hyperparathyroid-Jaw Tumor Syndromes occur?
associated with germline inactivating mutation of the
CDC73/HRPT2 tumor suppressor gene
Results in loss of parafibromin tumorsuppressor protein function
Where do Hyperparathyroid-Jaw tumor Syndrome occur?
Parathryoid, jaw, kidney, uterus
What is another name for Hyperparathyroidism-Jaw Tumor Syndrome?
Cemento-Ossifying Fibroma of the Maxilla
What are findings that are common in HPT-JT syndrome?
Adenomas
Frequent cystic tumors