2-10-16-Multiple Endocrine Neoplasia Syndromes (Lopez) Flashcards Preview

Endocrine > 2-10-16-Multiple Endocrine Neoplasia Syndromes (Lopez) > Flashcards

Flashcards in 2-10-16-Multiple Endocrine Neoplasia Syndromes (Lopez) Deck (30):
1

What is the most prevalent form of MEN?

Men1

2

MEN tumors arise from the ___ group of cells, which constitute the diffuse system of neuroendocrine cells distributed throughout the body

Amine Precursor Uptake Decarboxylation (APUD)

3

The APUD acronym denotes the capacity of these cells to synthesize and/or secrete biogenic amines formed through the activity of the enzyme ___

L-DOPA decarboxylase

4

What types of tumors are associated with MEN1?

Parathyroid adenoma (95%)
Pancreatic endocrine tumors (50%)
Pituitary adenomas (40%)
Carcinoid tumors (30%)

5

What types of tumors are associated with MEN2A?

Medullary thyroid carcinoma (100%)
Bilateral pheochromocytoma (50%)
Parathyroid adenoma (10%)

6

What types of tumors are associated with MEN2B?

Medullary thyroid carcinoma (100%)
Neuromas (100%)
Pheochromocytoma (50%)

7

Marfanoid habitus and mucosal neuromas are characteristic of ___

MEN2B

8

___ is associated with possible Zollinger-Ellison and various pituitary pathologies such as acromegaly, cushing syndrome, and galactorrhea

MEN1

9

Wermer syndrome is caused by mutations in the MEN1 gene, which encodes a protein known as Menin. Menin functionally acts as a ____

Tumor suppressor

Mutations in menin causes unregulated cell division that leads to tumor formation

10

Tumors in the parathyroid, pancreas (endocrine), and pituitary are associated with ___

MEN1 (Wermer syndrome)

11

What are 3 means of diagnosing MEN1?

Clinical-2 or more MEN1-associated tumors

Familial-Patient with 1 MEN1-associated tumor and a 1st degree relative with MEN1

Genetic-An asymptomatic carrier of MEN1 mutation (no BCHEM manifestations)

12

___ is usually the 1st manifestation of MEN1

Hyperparathyroidism

13

___ is the 2nd most common manifestation of MEN1

Neoplastic transformation of the pancreatic islet cells

14

The most frequent manifestation of MEN1 pancreatic involvement is a ___

___ are the 2nd most common type of functional pancreatic tumor in MEN1

Gastrinoma

Insulinoma

15

The symptoms of ___ are the 3rd most common manifestation of MEN1

Hyperprolactinemia

16

MEN1 patients may develop tumor-secreting __ and present with Cushing Syndrome

MEN1 patients may develop tumor-secreting __ and present with Acromegaly

ACTH

GH

17

What are therapeutic options for MEN1?

Surgical resection of hyperplastic parathyroid tissue

Surgical resection of pituitary adenomas or pharmacological management of pituitary adenomas with BROMOCRIPTINE for prolactinomas and OCTREOTIDE for acromegaly

Subtotal pancreatectomy

18

MEN type 2 is caused by an activating mutation of the ___ protooncogene

RET

RET codes for rTK that phosphorylates and activates enzymes critical to cell development

19

The most common sign of MEN2 is malignant transformation of ___ cells

Parafollicular (C cells)=medullary thyroid carcinoma (MCT)

20

Overall, mortality in ___ is more severe of the MEN type 2

MEN2B

21

___ consists of neoplastic transformation of parathyroids, thyroid parafollicular C cells, and adrenal medulla

MEN2A (Sipple syndrome)

22

Pheochromocytomas associated with MEN2A secrete greater amounts of ___ than sporadic pheochromocytomas

Epinephrine

23

___ is an itchy skin condition that may present in MEN2 cases

Cutaneous lichen amyloidosis--> usually pruritic, scaly, papular, pigmented, and located in the interscapular region or on the extensor surfaces of the extremities.

24

___ is the association of MTC and pheochromocytoma with multiple mucosal neuromas in an affected individual

MEN2B syndrome

25

Hyperparathyroidism is not associated with ___

MEN2B

26

In what MEN syndrome could pheochromocytoma be involved>

MEN 2-Both type 2a and 2b

27

In a pheochromocytoma, what is the source of excessive catecholamine secretion?

Chromaffin cells of the adrenal medulla

28

Congenital adrenal hyperplasia can be caused a deficiency in this enzyme: ____

21-beta-hydroxylase

29

Mutation in which gene is diagnostic for MEN2A?

RET oncogene

30

Each MEN syndrome is inherited as a __ trait with a high degree of penetrance and variable expressivity

Autosomal dominant