Krafts: MEN Syndromes

Question 1

What are MEN syndromes?

Answer 1

Genetic disorders that
predispose to endocrine tumors

Two categories:
MEN-1 and MEN-2

Question 2

Why are MEN tumors worse than sporadic variants?

Answer 2

Younger age
Multiple organs
Multifocal (w/in same organ)
Aggressive

Question 3

Does MEN 1 occur in the thyroid?

Answer 3

not much

Question 4

Where does MEN 1 usually occur?

Answer 4

other endocrine organs BUT the thyroid

HYperplasia, adenoma, carcinoma

Question 5

Where does MEN 2 usually occur?

Answer 5

Thyroid Medullary carcinoma (not in other organs)

Question 6

What are the three Ps of MEN 1?

Answer 6

Parathyroid hyperplasia
Pancreatic endocrine tumors
Pituitary adenoma

Question 7

Almost everyone with MEN I presents w/…

Answer 7

Parathyroid hyperplasia

• -commonest manifestation
• -hypercalcemia (Ca deposits, stones in vessels)

Question 8

What pancreatic endocrine tumors do pts w/ MEN I often present with?

Answer 8

Pancreatic endocrine tumors

• Gastrinoma (Zollinger-Ellison)
• Insulinoma (hypoglycemia)

Usually metastatic at diagnosis

BAD news

Question 9

What type of pituitary adenoma commonly occurs in MEN I?

Answer 9

prolactinoima

Question 10

What other stuff can occur w/ MEN I?

Answer 10

duodenal gastrinoma
carcinoid
thyroid/adrenal adenomas
lipomas

Question 11

What gene mutation occurs in MEN I? What type of gene is it?

Answer 11

MEN 1 gene mutation that encodes MENIN

Mutation turns OFF the gene (take breaks off car/cell growth> uncontrolled proliferation)

Tumor suppressor gene

Question 12

What do TSGs do?

Answer 12

Turn off proliferation

Question 13

How does Brad Pitt remind you of MEN 1?

Answer 13

PITT-uitary adenoma (3 Ps)

MEN1 gene (run of the mill, inactive, turn off)

Question 14

What can you do to avoid the negative aspects of MEN 2?

Answer 14

If you know you have MEN 2 you can take out thyroid and eliminate negative consequences of syndrome

Test family members

Question 15

Why is MEN2A?

Answer 15

Medullary thyroid carcinoma
Pheochromocytoma (adrenal medulla cells)
Parathyroid hyperplasia

Question 16

How does medullary thyroid carcinoma present in MEN2A?

Answer 16

Medullary thyroid carcinoma:
all patients
aggressive
multifocal
C-cell hyperplasia (proceeds everything else)

Question 17

How does pheochromocytoma present in MEN2A?

Answer 17

half of patients
bilateral
extra-adrenal cells
benign or malignant

Question 18

How does parathyroid hyperplasia present in MEN2A?

Answer 18

10-20% of patients

hypercalcemia

Question 19

What gene mutation causes MEN2A genetics?

Answer 19

RET gene mutation> turns gene ON> makes cell grow like crazy

RET is a Proto-oncogene (makes cells grow)= Encodes tyrosine kinase receptor

Question 20

How is MEN2B similar to MEN2A?

Answer 20

medullary thyroid carcinoma
pheochromocytoma
RET gene

Question 21

How is MEN2B different from 2A?

Answer 21

no parathyroid hyperplasia
neuromas (lesions of nerve sheath cells)
Marfanoid habitus

Question 22

How does Cleese help you remember MEN-2?

Answer 22

(C)leese-cell hyperplasia
bRETon gene
one of a kind
always turned on

Question 23

REMEMBER which one is proto-oncogene and which one is the TSG.

Answer 23

John Cleese vs. BP