44. Multiple endocrine neoplasias Flashcards Preview

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Flashcards in 44. Multiple endocrine neoplasias Deck (30):
1

mode of inheritance

ALL MEN have AD

2

types

MEN1
MEN 2A
MEN 2B

3

MEN 1 mutation

MEN1 gene (menin0

4

menin gene is a

tumor suppressor

5

MEN 1 - manifestations

3Ps
1. parathyrod tumors
2. Puitary tumors ( prolactin of GH)
3. pancreactic endocrine tunors

6

MEN 1 - pancreatic endocrine tumors

1. Zollinger Ellison syndrome
2. insulinomas
3. VIPomas
4. Glucagonomas

7

MEN 1 - mode of inheritance

AD

8

MEN 2A - manifestation

1. Parathyroid hyperplasia
2. Pheochromocytoma
3. Medullary thyroid carcinoma

9

Medullary thyroid carcinoma - origin / characteristic management

neoplasm of parafollicular ( C) cells secretes calcitonin
prophylactic thyroidectomy is required

10

MEN 2A- mutation and mode of inheritance

RET GENE
Ad

11

Ret gene - action

codes for receptor tyrosine kinase in cells of neural crest origin

12

MEN 2B - mutation and mode of inheritance

RET gene
AD

13

MEN 2b

1. Pheochromocytoma
2. Medullary thyroid carcinoma
3. Oral / interstinao fanglioneuromatosis ( mucosal neuromas)
4. Marfanoid habitus

14

MEN 1 vs MEN 2 according parathyroids glands

MEN 1 : parathyroid tumor
MEN 2A : parathyroid hyperplasia

15

MEN 1 - pancreatic tumors

1. Zolliner Ellison syndrome
2. insulinomas
3. VIPomas
4. Glucagonomas

16

MEN with RET mutation

MEN 2A
MEN 2B

17

MEN with calcitonin secretion

MEN 2A and MEN 2B
(medullary thyroid carcinoma)

18

MEN 1 - pituitary tumors

1. prolactin
2. GH

19

• Multiple endocrine neoplasia (MEN) type 1, or Wermer syndrome, is associated with tumors in what three locations?

Pituitary, Parathyroid, and Pancreas (MEN 1 = 3 P's)

20

• Name four pancreatic endocrine tumors seen in multiple endocrine neoplasia (MEN) type 1.

Insulinoma, Zollinger-Ellison syndrome (gastrinoma), vasoactive intestinal peptide tumor (VIPoma), and, rarely, glucagonomas

21

• A man presents with recurrent ulcers and kidney stones. What multiple endocrine neoplasia (MEN) might he have; what mutation is involved?

MEN 1 (elevated parathyroid hormone can cause renal stones, and ulcers are associated with gastrinoma); MEN1/menin gene (tumor suppressor)

22

• What three tumors are associated with multiple endocrine neoplasia (MEN) type 2A, or Sipple syndrome?

Medullary thyroid carcinoma, Pheochromocytoma, and Parathyroid tumors (MEN 2A = 2 P's)

23

• A patient with an autosomal dominant disorder has elevated calcitonin. Which syndromes and mutations are associated with this finding?

MEN 2A, MEN 2B (medullary thyroid cancer); RET gene mutation (codes for receptor tyrosine kinase)

24

• What three tumors are associated with multiple endocrine neoplasia (MEN) type 2B?

Medullary thyroid carcinoma, Pheochromocytoma, and oral or intestinal ganglioneuromas (MEN 2B = 1 P)

25

• A man has a marfanoid habitus. Which multiple endocrine neoplasia (MEN) type causes this? What other conditions might he have?

MEN 2B; pheochromocytoma, medullary thyroid carcinoma, mucosal neuromas (oral, intestinal)

26

• A man has multiple endocrine neoplasia (MEN) type 1. His wife does not have it. What is the likelihood that his child will have the disease?

50% all MEN syndromes have autosomal dominant inheritance ("all MEN are dominant" [or so they think])

27

• What gene mutation is seen in multiple endocrine neoplasia (MEN) types 2A and 2B, and what does it code for?

A mutation in the RET gene; receptor tyrosine kinase

28

• Which multiple endocrine neoplasia (MEN) is associated with parathyroid tumors, and which is associated with parathyroid hyperplasia?

MEN 1 is associated with parathyroid tumor, whereas MEN 2A is associated with parathyroid hyperplasia.

29

• A patient with recurrent gastric ulcers experiences bitemporal visual defects. What third gland is at risk for abnormalities?

Parathyroid gland; this is MEN 1, associated with tumors of the parathyroid, pituitary, and endocrine pancreas

30

• FNA of a thyroid nodule shows nests of Congo red–positive cells. History includes a parent and sister who had pheochromocytoma. Gene defect?

RET gene mutation; this is MEN 2A or 2B syndrome (both are associated with medullary thyroid cancers, hence Congo red staining for amyloid)