Krafts: MEN Syndromes Flashcards
What are MEN syndromes?
Genetic disorders that
predispose to endocrine tumors
Two categories:
MEN-1 and MEN-2
Why are MEN tumors worse than sporadic variants?
Younger age
Multiple organs
Multifocal (w/in same organ)
Aggressive
Does MEN 1 occur in the thyroid?
not much
Where does MEN 1 usually occur?
other endocrine organs BUT the thyroid
HYperplasia, adenoma, carcinoma
Where does MEN 2 usually occur?
Thyroid Medullary carcinoma (not in other organs)
What are the three Ps of MEN 1?
Parathyroid hyperplasia
Pancreatic endocrine tumors
Pituitary adenoma
Almost everyone with MEN I presents w/…
Parathyroid hyperplasia
- -commonest manifestation
- -hypercalcemia (Ca deposits, stones in vessels)
What pancreatic endocrine tumors do pts w/ MEN I often present with?
Pancreatic endocrine tumors
- Gastrinoma (Zollinger-Ellison)
- Insulinoma (hypoglycemia)
Usually metastatic at diagnosis
BAD news
What type of pituitary adenoma commonly occurs in MEN I?
prolactinoima
What other stuff can occur w/ MEN I?
duodenal gastrinoma
carcinoid
thyroid/adrenal adenomas
lipomas
What gene mutation occurs in MEN I? What type of gene is it?
MEN 1 gene mutation that encodes MENIN
Mutation turns OFF the gene (take breaks off car/cell growth> uncontrolled proliferation)
Tumor suppressor gene
What do TSGs do?
Turn off proliferation
How does Brad Pitt remind you of MEN 1?
PITT-uitary adenoma (3 Ps)
MEN1 gene (run of the mill, inactive, turn off)
What can you do to avoid the negative aspects of MEN 2?
If you know you have MEN 2 you can take out thyroid and eliminate negative consequences of syndrome
Test family members
Why is MEN2A?
Medullary thyroid carcinoma
Pheochromocytoma (adrenal medulla cells)
Parathyroid hyperplasia
How does medullary thyroid carcinoma present in MEN2A?
Medullary thyroid carcinoma: all patients aggressive multifocal C-cell hyperplasia (proceeds everything else)
How does pheochromocytoma present in MEN2A?
half of patients
bilateral
extra-adrenal cells
benign or malignant
How does parathyroid hyperplasia present in MEN2A?
10-20% of patients
hypercalcemia
What gene mutation causes MEN2A genetics?
RET gene mutation> turns gene ON> makes cell grow like crazy
RET is a Proto-oncogene (makes cells grow)= Encodes tyrosine kinase receptor
How is MEN2B similar to MEN2A?
medullary thyroid carcinoma
pheochromocytoma
RET gene
How is MEN2B different from 2A?
no parathyroid hyperplasia
neuromas (lesions of nerve sheath cells)
Marfanoid habitus
How does Cleese help you remember MEN-2?
(C)leese-cell hyperplasia
bRETon gene
one of a kind
always turned on
REMEMBER which one is proto-oncogene and which one is the TSG.
John Cleese vs. BP
