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28 Cards in this Set
- Front
- Back
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What does MEN stand for?
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Multiple Endocrine Neoplasia
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Are MEN 1 and MEN 2 the same?
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No they are distinct hereditary cancer syndromes.
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What are the affected tissues in MEN 1?
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PAPA
-Parathyroid -Anterior pituitary -Adrenal cortex -Pancreatic islets |
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On what chromosome are the germline mutations in MEN1?
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Chromosome 11
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What are the 3 affected tissues in MEN2?
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TAP-m
-Thyroid C-cells -Adrenal medulla -Parathyroid |
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On what chromosome is the germline mutation in MEN2?
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RET gene, chromosome 10
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So what is the hallmark of MEN2?
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Medullary Thyroid Carcinoma - MTC
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What % of all thyroid cancers are MTC?
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10
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What % of MTC is sporadic vs MEN2?
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Sporadic = 75%
MEN2 = 22% |
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How would you distinguish hereditary from sporadic MTC?
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-Multifocal
-Early age onset -C-cell hyperplasia -Family history -Associated endocrinopathies |
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What are the 2 associated endocrinopathies with MTC?
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-Pheochromocytoma
-Hyperparathyroidism |
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What is the incidence of MTC in patients with a mutation in the RET gene causing MEN 2A?
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100%!!!
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What sets apart MEN 2B from MEN2A?
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-Earlier onset
-More aggresive tumors! |
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What are 4 developmental abnormalities associated with MEN 2b?
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-Mucosal neuromas
-Ganglioneuromatosis -Marfanoid phenotype -Megacolon |
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What is FMTC?
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Familial medullary thyroid carcinoma
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What makes FMTC different from MEN 2A and 2B?
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It doesn't have any associated abnormalities
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How is sporadic MTC differentiated from MEN 2A/2B and FMTC based on distribution?
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Sporadic = unilateral
MEN2A/2B, FMTC = bilateral |
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What is the RET gene, and why does its mutation cause MEN2 syndromes?
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-A proto-oncogene
-When mutated, gas is stuck on |
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What is the protein that is encoded for by RET?
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A membrane associated tyrosine kinase receptor
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Which exons are mutated in MEN2B?
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15 and 16
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What is Hirschsprung Disease?
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A congenital lack of enteric innervation leading to blocked intestines.
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What do 10-40% of patients with Hirschsprung disease have?
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RET mutations
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How are the RET mutations that cause Hirschsprung disease different from those in MEN 2?
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These cause inactivation or loss of RET function.
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What is the lifetime risk of MTC in all RET mutation carriers?
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100%
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So what is a general treatment for RET mutation carriers?
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Prophylactic thyroidectomy
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Why would you do a prophylactic thyroidectomy?
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Because you CAN save their life!!
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What are 4 conditions that should be present for genetic testing to be considered?
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-Patient has reasonable likelihood of having gene defect
-Genetic test is available and can be interpreted -Results influence med mangmt -Patient wants the info |
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What is the main thing to remember about Genetic susceptibility testing?
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It is NOT screening test; you have to be able to provide adequete counseling and followup to do it.
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