Multiple Endocrine Neoplasia Syndromes Flashcards
1
Q
- MEN typically involves tumors (neoplasia) in at least _ endocrine glands
- Inherited in an _ fashion with a high degree of _ and variable _
- What are the major forms of MEN?
A
- 2
- AD, penetrance, expressivity
- MEN1, MEN2A, MEN2B, MEN4
2
Q
- Which is more common, MEN1 or MEN2?
- Which form of MEN2 is more common?
- Which form of MEN2 is more aggressive?
A
- MEN1
- MEN2A
- MEN2B
3
Q
- MEN tumors arive from _ precursors that secrete and synthesize biogenic amines formed thru the activity of L dopa decarboxylase
- This group of cell comes from what embryological germ layer?
A
- APUD (Amine precursor uptake and decarboxylation)
- Neuroectoderm
4
Q
- What tumors are associated with MEN1?
A
- 3Ps
- Pituitary
- Pancreas
- Parathyroid
- Some also have carcinoid tumors
5
Q
- What tumors are associated with MEN2A?
A
- Parathyroid
- Pheochromocytoma
- Thyroid
6
Q
- What tumors are associated with MEN2B?
A
- NEUROMAS
- Thyroid
- Pheochromocytoma
7
Q
_ is the first tumor to show up in MEN1, however, patients usually do not come into office for treatment until _ tumor develops and causes associated symptoms
A
- Parathyroid
- Pancreatic
8
Q
_ and _ are 100% likely in patients with MEN2
A
- Neuromas
- Marfanoid habitus
9
Q
- Conditions associated with MEN1
A
- Hyperparathyroidism
- Hypercalcemia
- Possible ZE
- Various pituitary pathologies
- Acromegaly (GH secreting tumor)
- Cushing (ACTH secreting tumor)
- Galactorrhea (Prolactin secreting tumor)
10
Q
- Conditions associated with MEN2A
A
- Hyperparathyroidism
- Hypercalcemia
- Medullary carcinoma
- Increased calcitonin
- Increased catecholamines
11
Q
- Conditions associated with MEN2B
A
- Mucosal nodules
- Marfanoid body habitus
- Medullary carcinoma
- Increased calcitonin
- Increased catecholamines
12
Q
- MEN1 /Werner occurs d/t mutation in _ gene, which is what type of gene and encodes for what protein?
- _ tumors have also been frequently reported in MEN1 patients
A
- MEN1 gene-menin
- Tumor suppressor gene
- Carcinoid
13
Q
- What are the three means of diagnosing MEN1?
A
- Clinical-two or more MEN associated tumors
- Familial-patient with one MEN-1 associated tumor and first degree relative with MEN1
- Genetic-Asymptomatic carrier of MEN1 mutation
14
Q
- Most frequent manifestation of MEN1 pancreatic involvement is _ (a a type of ectopic tumor)
- _ are the 2nd most common type
- Other types
A
- Gastrinoma (can lead to gastric and duodenal ulcers)
- Insulinomas
- Glucagonomas, Somatostatinomas, VIPomas
15
Q
- The most common pituitary tumor is _
- What symptoms does this cause in men and women?
- What other tumors are possible
- Patients with MEN1 have increased frequency of both functional/non-functional _
A
- Prolactinoma
- Suppression of FSH and LH
- Amenorrhea and galactorrhea in women
- Low libido in men
- Other possible tumors:
- GH secreting-acromegaly
- ACTH secreting-Cushing’s
- Adrenal cortical hyperplasia/adenomas
16
Q
- Treatment for MEN1
A
- Surgical resection of parathyroid
- Surgical resection of pituitary adenomas or pharmacological management (EX: Bromocriptine (Dopamine agonist) for acromegaly)
- Pancreatectomy (cure usually not possible)
17
Q
MEN2: mutation in _ gene that codes for _ and is what type of gene?
Most common sign of MEN2 is malignant transformation of _
A
- RET-RTK, protooncogene
- Parafollicular C Cells
18
Q
- MEN2A/Sipple
- Neoplasia of what endocrine glands
- Pheochromocytomas of MEN2A secrete more _ than sporadic pheochromocytomas
- _ amyloidosis is often common
A
- Pheochromocytoma, Thyroid Parafollicular C Cells, Adrenal Medulla (Pheochromocytoma)
- EPi
- Cutaneous lichen amyloidosis
19
Q
- _ involves the growth of existing cells
- _ involves increasing the number of cell types
A
- Hypertrophy
- Hyperplasia
20
Q
- Two distinctive characteristics of MEN2B are _ and _
A
- Marfan body habitus
- Mucosal neuromas
21
Q
- Summary of MEN2
A
22
Q
- There is pathophysiology in what cells of the thyroid in MEN2 (A or B)?
A
- Parafollicular C cells
