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

Question 1

What is the most prevalent form of MEN?

Answer 1

Men1

Question 2

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

Answer 2

Amine Precursor Uptake Decarboxylation (APUD)

Question 3

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

Answer 3

L-DOPA decarboxylase

Question 4

What types of tumors are associated with MEN1?

Answer 4

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

Question 5

What types of tumors are associated with MEN2A?

Answer 5

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

Question 6

What types of tumors are associated with MEN2B?

Answer 6

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

Question 7

Marfanoid habitus and mucosal neuromas are characteristic of ___

Answer 7

MEN2B

Question 8

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

Answer 8

MEN1

Question 9

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

Answer 9

Tumor suppressor

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

Question 10

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

Answer 10

MEN1 (Wermer syndrome)

Question 11

What are 3 means of diagnosing MEN1?

Answer 11

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)

Question 12

___ is usually the 1st manifestation of MEN1

Answer 12

Hyperparathyroidism

Question 13

___ is the 2nd most common manifestation of MEN1

Answer 13

Neoplastic transformation of the pancreatic islet cells

Question 14

The most frequent manifestation of MEN1 pancreatic involvement is a ___

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

Answer 14

Gastrinoma

Insulinoma

Question 15

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

Answer 15

Hyperprolactinemia

Question 16

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

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

Answer 16

ACTH

GH

Question 17

What are therapeutic options for MEN1?

Answer 17

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

Question 18

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

Answer 18

RET

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

Question 19

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

Answer 19

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

Question 20

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

Answer 20

MEN2B

Question 21

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

Answer 21

MEN2A (Sipple syndrome)

Question 22

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

Answer 22

Epinephrine

Question 23

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

Answer 23

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

Question 24

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

Answer 24

MEN2B syndrome

Question 25

Hyperparathyroidism is not associated with ___

Answer 25

MEN2B

Question 26

In what MEN syndrome could pheochromocytoma be involved>

Answer 26

MEN 2-Both type 2a and 2b

Question 27

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

Answer 27

Chromaffin cells of the adrenal medulla

Question 28

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

Answer 28

21-beta-hydroxylase

Question 29

Mutation in which gene is diagnostic for MEN2A?

Answer 29

RET oncogene

Question 30

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

Answer 30

Autosomal dominant