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28 Cards in this Set

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What does MEN stand for?
Multiple Endocrine Neoplasia
Are MEN 1 and MEN 2 the same?
No they are distinct hereditary cancer syndromes.
What are the affected tissues in MEN 1?
PAPA
-Parathyroid
-Anterior pituitary
-Adrenal cortex
-Pancreatic islets
On what chromosome are the germline mutations in MEN1?
Chromosome 11
What are the 3 affected tissues in MEN2?
TAP-m
-Thyroid C-cells
-Adrenal medulla
-Parathyroid
On what chromosome is the germline mutation in MEN2?
RET gene, chromosome 10
So what is the hallmark of MEN2?
Medullary Thyroid Carcinoma - MTC
What % of all thyroid cancers are MTC?
10
What % of MTC is sporadic vs MEN2?
Sporadic = 75%

MEN2 = 22%
How would you distinguish hereditary from sporadic MTC?
-Multifocal
-Early age onset
-C-cell hyperplasia
-Family history
-Associated endocrinopathies
What are the 2 associated endocrinopathies with MTC?
-Pheochromocytoma
-Hyperparathyroidism
What is the incidence of MTC in patients with a mutation in the RET gene causing MEN 2A?
100%!!!
What sets apart MEN 2B from MEN2A?
-Earlier onset
-More aggresive tumors!
What are 4 developmental abnormalities associated with MEN 2b?
-Mucosal neuromas
-Ganglioneuromatosis
-Marfanoid phenotype
-Megacolon
What is FMTC?
Familial medullary thyroid carcinoma
What makes FMTC different from MEN 2A and 2B?
It doesn't have any associated abnormalities
How is sporadic MTC differentiated from MEN 2A/2B and FMTC based on distribution?
Sporadic = unilateral

MEN2A/2B, FMTC = bilateral
What is the RET gene, and why does its mutation cause MEN2 syndromes?
-A proto-oncogene
-When mutated, gas is stuck on
What is the protein that is encoded for by RET?
A membrane associated tyrosine kinase receptor
Which exons are mutated in MEN2B?
15 and 16
What is Hirschsprung Disease?
A congenital lack of enteric innervation leading to blocked intestines.
What do 10-40% of patients with Hirschsprung disease have?
RET mutations
How are the RET mutations that cause Hirschsprung disease different from those in MEN 2?
These cause inactivation or loss of RET function.
What is the lifetime risk of MTC in all RET mutation carriers?
100%
So what is a general treatment for RET mutation carriers?
Prophylactic thyroidectomy
Why would you do a prophylactic thyroidectomy?
Because you CAN save their life!!
What are 4 conditions that should be present for genetic testing to be considered?
-Patient has reasonable likelihood of having gene defect
-Genetic test is available and can be interpreted
-Results influence med mangmt
-Patient wants the info
What is the main thing to remember about Genetic susceptibility testing?
It is NOT screening test; you have to be able to provide adequete counseling and followup to do it.