DLA6- MEN Syndromes

Question 1

MEN = (1)

• (2) is the main development
• (hereditary/acquired)

Answer 1

1- multiple endocrine neoplasia

2- over-activity / enlargement / tumors of 2 or more endocrine glands

3- hereditary

Question 2

MEN:

• (1) typical age of onset
• (2) aggressiveness
• tumors develop (together/separate)

Answer 2

1- young (younger than sporadic endocrine tumors)

2- very aggressive, high recurrence

3- either synchronous or metachronous development

Question 3

MEN1, aka (1): (2) inheritance of (3) gene

Answer 3

1- Wermer Syndrome

2- AD

3- MEN1 gene –> tumor suppressor gene – encodes for menin

Question 4

list the common tumors in MEN1

Answer 4

(3 P’s)

• parathyroid glands (after 50y/o)
• anterior pituitary
• pancreatic (or GU endocrine cells)

Question 5

(1) is the most common MEN1 manifestation, with (2) abnormality present in the organ

Answer 5

1- hyperparathyroidism, 80-95% Pts (high PTH = high Ca)

2- hyperplasia, adenomas

Question 6

(1) is the common pituitary development in MEN1, (2) is the next most common. Pituitary tumors usually present as a (single/multiple) tumor(s).

Answer 6

1- prolactinoma
2- acromegaly (GH)
3- single (rarely multiple)

Question 7

(1) is the leading cause of mortality in MEN1 persons and present as (2), (3), (4).

Answer 7

1- pancreatic islet cell / GI tumors (aggressive, usually have metastasis)

2- Gastrinomas
3- Insulinomas
4- VIPomas, Glucagonomas (rare)

Question 8

(1) describe presentation of a gastrinoma

(2) describe presentation of an insulinoma

Answer 8

1- excess gastrin –> excess gastric acid –> gastric / duodenal peptic ulcers = Zollinger-Ellison syndrome

2- episodes of hypoglycemia and neurological Sxs

Question 9

Basis of MEN1 Dx: clinically, familially, genetically

Answer 9

Clinical: 2 or more MEN1 associated tumors

Familial: 1 MEN1 associated tumor + 1st degree relative w/ MEN1

Genetically: no tumors, carrying MEN1 mutation

Question 10

MEN2:

• (1) types
• (2) inheritance of (3) gene (include type and location)

Answer 10

1- MEN2A, MEN2B

2- AD

3- RET, proto-oncogene, chr10

Question 11

MEN2A cancers (include % frequency seen + brief description)

Answer 11

• medullary carcinoma of thyroid, 100%: multifocal + C-cell hyperplasia in adjacent thyroid, aggressive
• pheochromocytoma, 40-50%: often bilateral, possibly extra-adrenal
• parathyroid hyperplasia, 10-20%: hypercalcemia, renal stones

Question 12

MEN2B cancers (include % frequency seen + brief description)

Answer 12

MTC (medullary thyroid cancer), 100%: develops earlier than MEN2A, more aggressive (Tx w/ neonatal thyroidectomy)

Pheochromocytoma, 50%

(in comparison to MEN2A, no parathyroid hyperplasia)

Additional tumors: neuromas in lips/tongue, intestinal ganglioneuromas
Other Sxs: marfanoid like features, constipation / megacolon