MEN Flashcards
MEN syndrome, to be considered as such has to involve how many endocrine glands?
At least two.
True or False, MEN are most often cancerous.
False. they’re mixed of benign and malignant
How is MEN inherited and what is it’s penetrance?
Autosomal dominant with high degree of penetrance and variable expressivity
Which form of MEN is more common?
MEN 1
The fact that MEN can affect so many endocrine organs is explained by _
The tumors arise from amine precursor uptake and decarboxylation (APUD) groups of cells which constitutes the diffuse system of neuroendocrine cells distributed throughout the body.
what is meant by APUD and what enzyme is involved?
APUD denotes the capacity of those cells to synthesize and secrete biogeneic amines formed through the activity of the enzyme L-dopa decarboxylase.
Hyperparathyroidim is usually NOT seen in which MEN type?
MEN 2B
Enteropancreatic tumors are usualy seen in what MEN type?
MEN 1
Pituitary adenomas are usuauly seen in what MEN type?
Type 1
Medullary thryoid carcinoma are usually seen in what MEN type
Type 2 (both A and B)
Pheochormocytomas are usuauly seen in what MEN type?
Type 2 both A and B
Mucosal neurons and marfanoid habitus are usually seen in what MEN type?
Type 2B 100%
If a patient presents with pancreas/GI endocrine and pituitary adenomas, what MEN type is probably associated?
MEN 1
if a patient presents with Pheocromocytomas, medullary thryoid cancer what MEN type is probably associated?
MEN 2
If a patient presents with acromegaly, Cushing syndrome, galactorrhea, what is the most likely MEN syndrome assocaited?
MEN 1
What is Wermer syndrome?
AKA MEN type 1. It is caused by a mutation in the MEN gene which encodes menin, which normally is a tumor suppressor. So without menin, cell division is unregulated and leads to tumor formation.
What MEN is associated with tumors of the three P’s
Type I, which is seen in pituitary, pancreas and parathyroid
In MEN type 1, male are like to develop carcoid tumors where?
within the thymus
In MEN type 1, females are likely to develop carcinoid tumors where?
Bonchi.
How can MEN 1 be diagnosed?
- Two or more MEN 1 associated tumors
- Familial: patients with one MEN 1 asosciated tumor and a first-degree relative with MEN 1
- Genetic: an asymptomatic carrier of MEN 1 mutation
In MEN type 1, the most frequently involved organ is _ and tumors will be usually seen in how many of those glands?
Parathyroid glands. On all four glands.
GLucognomas, somatostatinomas, VIPomas, and gastrionoma are assoicated with defect in in protein?
those omas describes MEN type 1 which is due to mutation in menin protein.
Octreotide is used to treat what condition?
acromegaly
Bromocriptine is used to treat what condition?
prolactinomas associated with pituitary tumors
MEN type 2 is associated with activating mutation of what gene?
RET protooncogene.
What is the normal function of RET?
RET gene encodes for a receptor tyrosine kinase that phosphorylates and activates enzymes critical to cellular development.
Medullary thyroid carcinoma is the most common malignant transformation in what type of MEN?
MEN type 2
C cell hyperplasia is assoicated with which MEN type disorder?
MEN type 2
What is Siplle syndrome?
AKA MEN Type 2A, neoplastic transformation of parathyroids, thyroid parafollicular Cellls and adrenal medulla; pheochromocytomas that secrere greater amount of E then regular pheochormocytomas; and cutaneous lichen amyloidoisis is seen on skiin.
How can MEN type 2B be distinguished from MEN type 2A?
THe prsence of MTC and pheochromocytoma with multiple mucosal neuromas in an affected individual. THe MTC is more aggressive and have metastic lesion during infancey. Hyperparathyroidism is NOT seen.
List the conditions you’d see in MEN Type 2A
- medullary thyroid cancer, pheochromocytoma, primary hyperparathryoidism
- cutnaeous lichen amyloidisis
- Hirshsprung disease
- Familial medullay cancer w/o pheochromocytoma or parathyroid hyperplasia
List the conditions youd see in MEN Type 2B
- MTC
- Pheochromocytoma
- Mucosal neuromas, intestial gangliooneuromas and marfanoid habitus
A patient comes in with 2month hx of hoarseness and occasional palpitation, HA, diaphoresis, and elevated BP. PE shows lumps at base of her neck, biopsy of mass shows C cell hyperplasia, and lab shows hypercalcemia. What is the likely diagnosis?
MEN 2A
A baby is born w/o complication to a healthy mom. On PE whos dangerously hypotensive neonate with ambiguous genitalia, fused labia, and an enlarged and mascularized clitoris. what is the likely diagnosis?
CAH, due to 21 beta hydroxylase mutation.
