MEN

Question 1

MEN definition

Answer 1

occurrence of tumors involving 2 or more endocrine glands

Question 2

MEN inheritance pattern

Answer 2

AD or sporadic

Question 3

Tumors and findings in MEN syndrome (6)

Answer 3

Parathyroid adenomas

Pheochromocytoma

Enteropancreatic tumors

Pituitary adenomas

Medulalry thyroid cancer

Marfarnoid habitus

Question 4

Pituitary adenomas secrete

Answer 4

ACTH

Prolactin

Growth Hormone

LH/FSH

TSH

(from anterior pituitary)

Question 5

Medullary thyroid cancer tumors secrete

Answer 5

C cells > calcitonin

Question 6

marfanoid habitus =

Answer 6

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)

Question 7

parathyroid adenomas lead to

Answer 7

high serum Ca

low serum Phos

non suppressed or elevated PTH

Question 8

pheochromocytomas secrete

arise from

Answer 8

secrete catecholamines

arise from chromaffin cells of adrenal medulla

Question 9

presentation pheochromocytoma

Answer 9

HTN

headaches

palpitations

diaphoresis

Question 10

examples of enteropancreatic tumors

Answer 10

gastrinoma

insulinmoma

glucagonoma

nonfunctioning pancreatic tumors

Question 11

mutation and Tumors of MEN1

Answer 11

MEN1 = 11q13

Parathyroid adenoma (Same as MEN4)

Pituitary adenoma (Same as MEN4)

Enteropancreatic tumors

Question 12

mutation and tumors of MEN2A

Answer 12

MEN2 A = 11cen-10q11.2

Medullary thyroid cancer (Same as MEN2B)

Pheochromocytoma (Same as MEN2B)

Parathyroid hyperplasia (10-20%)

Question 13

mutation and tumors of MEN 2B

Answer 13

MEN2B = 110cen-10q11.2

Medullary Thyroid Cancer (Same as MEN2 B)

Pheochromocytoma (Same as MEN2A)

Mucosal Neuromas

Marafanoid Habitus

Question 14

mutation medullary thyroid cancer (solo)

Answer 14

10cen-10q11.2

Question 15

mutation and tumors of MEN4

Answer 15

MEN4 = 12p14

Parathyroid adenoma (same as MEN1)

Pituitary adenoma (Same as MEN1)

Preproductive organ tumors

Question 16

tumors shared by MEN1, MEN4

difference?

Answer 16

Parathyroid adenoma

Pituitary adenoma

MEN1 has enteropancreatic

MEN4 has reporductive organ tumors

Question 17

tumors shared by MEN2A, MEN2B

DIfference?

Answer 17

Medullary Thyroid cancer

Pheochromocytoma

MEN2A has parathyroid hyperplasia

MEN2B has Mucosal neuromas and marfanoid habitus

Question 18

3 methods of MEN1 dx

Answer 18

Clincial - patient with 2+ MEN1 tumors

Familial - tumor and first degree relative with MEN1

Genetic - MEN-1 mutation without manifestations, but mutant carrier

Question 19

MEN1 gene + characteristic

Answer 19

11a13

regulated trnascription, genome stability, cell division and proliferation

most germline mutations are inactivating

Question 20

MEN1 patients typically present with

Answer 20

Hypercalcemia

primary hyperparathyroidism

Question 21

MEN1 germline testing for

Answer 21

MEN1 pateints

first degree relatives (whether or not symptomatic)

Question 22

further testing protocol for index patient without MEN1 germinline mutation

Answer 22

identify first degree family members via chemistries:

Calcium, PTH

Gatrin

fasting glucose and insulin

prolactin

IGF-1

pancreases imaging

Question 23

Mutations of MEN2 and characteristic

Answer 23

RET protoonco gene (10cen-10q11.2)

(RET REarranged during Transfection)

Question 24

mutations in ___ predict disease presentation

Answer 24

MEN2

Question 25

Consider ____ in younger patients presenting with primary hyperparathyroid (most will not have it)

Answer 25

MEN1

Question 26

all patients with medulalry thyroid cancer should have ___ screening

Answer 26

RET proto oncogene screening