Multiple Endocrine Neoplasia (MEN) Flashcards
What is the quintessential hallmark of malignancy?
second hallmark?
metastasis, then invasion
Genetics of MEN
- inheritance?
- penetrance/expression?
Autosomal dominant
“MEN are dominant”
-high penetrance and variable expression
How can so many various endocrine organs be affected by MEN?
- APUD?
- enzyme?
Hyperplasia=?
Hypertrophy=?
what is a neoplasm?
neoplasms persist their secretions even after drugs are given
How to tell the three types of MEN apart
-by organ associated tumors
MEN I: Three P’s Parathyroid, Pancreatic (endocrine) tumors, Pituitary
MEN IIa: 2 P’s Parathyroid, Pheochromocytoma
-also has Medullary thyroid carcinoma
MEN IIb: 1P Pheochromocytoma
- also has medullary thyroid carcinoma
- can also be distinguished by musosal neuromas, and marfanoid habitus
Gene mutation in Wermer syndrome (MEN I)
menin, which is a tumor suppressor on chromosome 11
Carcinoid tumors in MEN I
-male vs female
Diagnosis of MEN I
- clinical
- familial
- Genetic
-hyperparathyroidism involvement in MEN I and how MEN I is usually detected
95% of MEN I have parathyroidism, but usually symptoms from pituitary or pancreatic involvement are sensed first
Hyperparathyroidism with MEN I
-how many glands?
ALL FOUR
MEN I endocrine pancreas involvement:
- which manifestation of MEN I?
- first and second most common pancreatic manifestations
- other potential less common pancreatic involvements
- pancreatic involvement overall second most common manifestation of MEN I
- gastrinomas are most frequent (Z-E syndrome)
- insulinomas are second most frequent
- glucagonomas, somatostatinomas, VIPomas
- Pituitary involvement in MEN I
- which manifestation?
- prolactin and symptoms in male vs female
- other syndromes associated?
pituitary involvement is third most common
Treatment of MEN I
- surgical resection of hyperplastic Parathyroid
- or phamacotherapy of PT via Bromocriptine (prolactinoma) or octreotide (acromegaly)
- remove as many pancreatic tumors as possible
MEN 2 mutation
-what does gene code for
-gain of function mutatio of RET protooncogene, which coes for a receptor tyrosine kinase that phosphorylates and activates enzymes critical to cellular development
MEN 2
- most common sign
- second most common sign
Which type of MEN 2 is more severe?
IIB
what is a medullary thyroid carcinoma?
- causes hyperplasia in which type of Cell?
- other peptides and hormones expressed
Causes C cells of thyroid follicles to secrete lots of calcitonin, hyperplasia of C cells
-somatostatin,TRH, VIP, POMC, carcinoembryonic antigen (CEA), and neurotensin
Symptoms of pheochromocytoma
uncontrollably high blood pressure non responsive to meds, often times in a patient you wouldnt expect to have such high bp
Skin condition associated with MEN IIa
Cutaneous lichen amyloidosis
MEN IIb
-characteristics
- pheochromocytomas, like in IIa
- but has muscular neuromas, intestinal ganlioneuromas, and a marfanoid body habitus to help distinguish it
