MEN syndromes Flashcards
what is the mode of inheritance associated with MEN ?
autosomal dominant
what are the features of MEN 1 syndrome ?
3ps
pituitary adenoma
parathyroid adenoma
pancreatic tumors
what is the mutation associated with MEN 1 ?
MEN 1 mutation
abnormal menin
lack of tumor suppressor
what is the finding associated with parathyroid adenoma in MEN 1 ?
hyperparathyroidism
may cause recurrent kidney stones
what is the most common pituitary adenoma in MEN 1?
mostly a prolactinoma
what is the presentation associated with pancreatic tumors in MEN 1 ?
zollinger ellison syndrome
gastrinoma
what are the common features of MEN 2A and 2B?
medullary thyroid carcinoma
pheochromocytoma
what is the difference between MEN 2A and 2B ?
2A - medullary plus parathyroid
no physical findings
2B - medullary plus Ms
mucosal neuroma
marfanoid appearance
no parathyroid involvement
what are the features of medullary carcinoma ?
parafollicular c cell carcinoma
produce calcitonin - hypocalcemia
what are the gene mutatios associated wirh MEN 2 ?
RET oncogene mutation
leading to gain of function
what is often done prophylactically in MEN 2 syndromes ?
thyroidectomy
pituitary adenoma only in ?
MEN 1
MTC or pheochromocytoma ?
only MEN 2
