Flashcards in 44. Multiple endocrine neoplasias Deck (30)
mode of inheritance
ALL MEN have AD
MEN 1 mutation
MEN1 gene (menin0
menin gene is a
MEN 1 - manifestations
1. parathyrod tumors
2. Puitary tumors ( prolactin of GH)
3. pancreactic endocrine tunors
MEN 1 - pancreatic endocrine tumors
1. Zollinger Ellison syndrome
MEN 1 - mode of inheritance
MEN 2A - manifestation
1. Parathyroid hyperplasia
3. Medullary thyroid carcinoma
Medullary thyroid carcinoma - origin / characteristic management
neoplasm of parafollicular ( C) cells secretes calcitonin
prophylactic thyroidectomy is required
MEN 2A- mutation and mode of inheritance
Ret gene - action
codes for receptor tyrosine kinase in cells of neural crest origin
MEN 2B - mutation and mode of inheritance
2. Medullary thyroid carcinoma
3. Oral / interstinao fanglioneuromatosis ( mucosal neuromas)
4. Marfanoid habitus
MEN 1 vs MEN 2 according parathyroids glands
MEN 1 : parathyroid tumor
MEN 2A : parathyroid hyperplasia
MEN 1 - pancreatic tumors
1. Zolliner Ellison syndrome
MEN with RET mutation
MEN with calcitonin secretion
MEN 2A and MEN 2B
(medullary thyroid carcinoma)
MEN 1 - pituitary tumors
• Multiple endocrine neoplasia (MEN) type 1, or Wermer syndrome, is associated with tumors in what three locations?
Pituitary, Parathyroid, and Pancreas (MEN 1 = 3 P's)
• Name four pancreatic endocrine tumors seen in multiple endocrine neoplasia (MEN) type 1.
Insulinoma, Zollinger-Ellison syndrome (gastrinoma), vasoactive intestinal peptide tumor (VIPoma), and, rarely, glucagonomas
• A man presents with recurrent ulcers and kidney stones. What multiple endocrine neoplasia (MEN) might he have; what mutation is involved?
MEN 1 (elevated parathyroid hormone can cause renal stones, and ulcers are associated with gastrinoma); MEN1/menin gene (tumor suppressor)
• What three tumors are associated with multiple endocrine neoplasia (MEN) type 2A, or Sipple syndrome?
Medullary thyroid carcinoma, Pheochromocytoma, and Parathyroid tumors (MEN 2A = 2 P's)
• A patient with an autosomal dominant disorder has elevated calcitonin. Which syndromes and mutations are associated with this finding?
MEN 2A, MEN 2B (medullary thyroid cancer); RET gene mutation (codes for receptor tyrosine kinase)
• What three tumors are associated with multiple endocrine neoplasia (MEN) type 2B?
Medullary thyroid carcinoma, Pheochromocytoma, and oral or intestinal ganglioneuromas (MEN 2B = 1 P)
• A man has a marfanoid habitus. Which multiple endocrine neoplasia (MEN) type causes this? What other conditions might he have?
MEN 2B; pheochromocytoma, medullary thyroid carcinoma, mucosal neuromas (oral, intestinal)
• A man has multiple endocrine neoplasia (MEN) type 1. His wife does not have it. What is the likelihood that his child will have the disease?
50% all MEN syndromes have autosomal dominant inheritance ("all MEN are dominant" [or so they think])
• What gene mutation is seen in multiple endocrine neoplasia (MEN) types 2A and 2B, and what does it code for?
A mutation in the RET gene; receptor tyrosine kinase
• Which multiple endocrine neoplasia (MEN) is associated with parathyroid tumors, and which is associated with parathyroid hyperplasia?
MEN 1 is associated with parathyroid tumor, whereas MEN 2A is associated with parathyroid hyperplasia.
• A patient with recurrent gastric ulcers experiences bitemporal visual defects. What third gland is at risk for abnormalities?
Parathyroid gland; this is MEN 1, associated with tumors of the parathyroid, pituitary, and endocrine pancreas