MEN Flashcards
MEN definition
occurrence of tumors involving 2 or more endocrine glands
MEN inheritance pattern
AD or sporadic
Tumors and findings in MEN syndrome (6)
Parathyroid adenomas
Pheochromocytoma
Enteropancreatic tumors
Pituitary adenomas
Medulalry thyroid cancer
Marfarnoid habitus
Pituitary adenomas secrete
ACTH
Prolactin
Growth Hormone
LH/FSH
TSH
(from anterior pituitary)
Medullary thyroid cancer tumors secrete
C cells > calcitonin
marfanoid habitus =
low upper body / lower body ration
abnl posterior position of manible
low head width and length
(no ectopic lens or aortic abnls as in marfans)
parathyroid adenomas lead to
high serum Ca
low serum Phos
non suppressed or elevated PTH
pheochromocytomas secrete
arise from
secrete catecholamines
arise from chromaffin cells of adrenal medulla
presentation pheochromocytoma
HTN
headaches
palpitations
diaphoresis
examples of enteropancreatic tumors
gastrinoma
insulinmoma
glucagonoma
nonfunctioning pancreatic tumors
mutation and Tumors of MEN1
MEN1 = 11q13
Parathyroid adenoma (Same as MEN4)
Pituitary adenoma (Same as MEN4)
Enteropancreatic tumors
mutation and tumors of MEN2A
MEN2 A = 11cen-10q11.2
Medullary thyroid cancer (Same as MEN2B)
Pheochromocytoma (Same as MEN2B)
Parathyroid hyperplasia (10-20%)
mutation and tumors of MEN 2B
MEN2B = 110cen-10q11.2
Medullary Thyroid Cancer (Same as MEN2 B)
Pheochromocytoma (Same as MEN2A)
Mucosal Neuromas
Marafanoid Habitus
mutation medullary thyroid cancer (solo)
10cen-10q11.2
mutation and tumors of MEN4
MEN4 = 12p14
Parathyroid adenoma (same as MEN1)
Pituitary adenoma (Same as MEN1)
Preproductive organ tumors
tumors shared by MEN1, MEN4
difference?
Parathyroid adenoma
Pituitary adenoma
MEN1 has enteropancreatic
MEN4 has reporductive organ tumors
tumors shared by MEN2A, MEN2B
DIfference?
Medullary Thyroid cancer
Pheochromocytoma
MEN2A has parathyroid hyperplasia
MEN2B has Mucosal neuromas and marfanoid habitus
3 methods of MEN1 dx
Clincial - patient with 2+ MEN1 tumors
Familial - tumor and first degree relative with MEN1
Genetic - MEN-1 mutation without manifestations, but mutant carrier
MEN1 gene + characteristic
11a13
regulated trnascription, genome stability, cell division and proliferation
most germline mutations are inactivating
MEN1 patients typically present with
Hypercalcemia
primary hyperparathyroidism
MEN1 germline testing for
MEN1 pateints
first degree relatives (whether or not symptomatic)
further testing protocol for index patient without MEN1 germinline mutation
identify first degree family members via chemistries:
Calcium, PTH
Gatrin
fasting glucose and insulin
prolactin
IGF-1
pancreases imaging
Mutations of MEN2 and characteristic
RET protoonco gene (10cen-10q11.2)
(RET REarranged during Transfection)
mutations in ___ predict disease presentation
MEN2
Consider ____ in younger patients presenting with primary hyperparathyroid (most will not have it)
MEN1
all patients with medulalry thyroid cancer should have ___ screening
RET proto oncogene screening
