Multiple Endocrine Neoplasias Flashcards Preview

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Flashcards in Multiple Endocrine Neoplasias Deck (22)
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1

Multiple endocrine neoplasia syndromes typically involve Neoplasias of at least ______ kinds of _______ glands

Two kinds of endocrine glands

2

MEN syndromes are typically autosomal _______ with a ____ degree of penetrance and _______ expressivity

Autosomal dominant with high degree of penetrance and variable expressivity

3

Most common type of MEN

MEN 1

MEN 2B is least common

4

MEN tumors arise from what cell type

Amine precursor uptake and decarboxylatino (APUD) group of cells

5

Role of APUD cells

Constitute the diffuse system of neuro endocrine cells distributed throughout the body
APUD denote the capacity of these cells to synthesize and/or secrete biogenic amines formed through activity of the zone

L-dopa decaroxylase

6

Enzyme that gives APUD cells their function (also what is their function)

L-dopa decarboxylase

APUD cells have capacity to synthesize/secrete biogenic amines

7

Other functions of APUD cells

Biogenic amine synthesis
Amine precursor uptake
Amine decarboxylase


Small polypeptide hormone synthesis
Membrane bound neurosecretory granules

8

Tumors associated with type 1 MEN

Pancreatic (ONLY SEEN IN TYPE 1)
Pituitary
Parathyroid
Carcinoid

9

Tumors associated wth type 2A MEN

Thyroid
Parathyroid
Adrenal (phaeochromocytoma)

10

Tumors associated with type 2B MEN

Neuromas *** (only seen in type 2B)

Thyroid
Phaechromocytoma

11

Conditions associated with type 1 MEN

Hyperparathyroidism
Hypercalcemia
ZE syndrome
Various pituitary path
(Acromegaly, Cushing syndrome, galactorrhea)

12

Conditions associated with type 2A MEN

Hyperparathyroidism
Hypercalcemia
Medullary carcinoma
Increased calcitonin
Increased catecholamines

13

Conditions associated with Type 2B MEN

Mucosal nodules ***
Marfanoid body habitus *

Medullary carcinoma
Increased calcitonin
Increased catecholamines

14

Gene defect leading to type I MEN

Mutations in the MEN1 gene that codes for ***menin****

Menin usually acts as tumor suppressor

Mutation of menin leads to unregulated cell division —> tumor

15

3Ps of Type 1 MEN

Parathyroid
Pancreas
Pituitary

16

Three ways to Dx MEN1

Clinical: two or more MEN-1 associated tumors
Familial: patient with one MEN1 associated tumor and first degree relative with MEN1
Genetic: asymptomatic carrier of EN1 mutation (no biochemical manifestations)

17

First symptom to present with type 1 MEN

Hyperparathyroidism

18

Second most common manifestation of MEN1

Pancreatic islet neoplasm

Most often leads to gastrinoma

Insulomas second most common

Can also get glucagoma, somatostinoma, VIPoma

19

Symptoms of hyperplasia of the pituitary

Occur in ~50% of MEN1

Most secrete prolactin
Leads to galactorrhea and amenorrhea in women/impotence in men

Third most common manifestation of MEN1

May develop ACTH/GH secreting humor with Cushing/acromegaly

20

Treatment for MEN1 involves

Surgical resection of hyperplastic parathyroid tissue

Surgical resection of pituitary adenomas/management with bromocriptine for prolacitnomas/octreotide for acromegaly

Subtotal pancreatoctomy (surgical cure of associated pancreatic tumors not usually possible)

21

MEN type 2 results from an activating mutation of what gene

RET protooncogene

RET gene codes for RTK that phosphorylates—> activates enzymes critical to cellular dev

22

Most common sign of MEN2

Malignant transformation of parafollicular cells (c cells) resulting in medullary thyroid carcinoma

C cells normally secrete calcitonin (bone tone)