Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Foundations 3 > MEN 1 > Flashcards

MEN 1 Flashcards

1
Q

How do MEN 1 occur?

A

Tumors result from Two-Hit Loss of Function at the MEN 1 Gene.

Meaning the other chromosome cannot suppress the tumor genes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

How are Multiple Endocrine Neoplasia Type 1 acquired?

A

Familial 90%

Sporadic 10%

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Which tumor suppressor protein is needed to prevent MEN 1

A

Menin

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

What is the most common MEN 1 tumor?

A

Parathyroid Hyperplasia 90%

multiple tumors*

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

What are the 3 most common types of MEN 1 tumors

A

Three P’s

Parathyroid Hyperplasia 90% (Hyperparathyroidism)

Pancreatic tumor

Pituitary tumors

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

What are examples of Non-Hormonal Tumors

A 
Facial angiofibroma (85%)
Truncal collagenoma (70%)
Lipoma (30%)
Leiomyoma (10%)
Meningioma (5%?)
Ependymoma (1%)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

What are first signs see in patients with Parathyroid Hyperplasia?

A

Hypercalcemia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

What are examples of Pacreatic Endocrine tumors?

A 
Gastrinomas
Insulinomas
Glucagonamos
VIPomas
Somatostatinomas
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

What is the treatment of Parathyroid hyperplasia?

A

Parathyroidectomy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

What are some examples of Non-classical tumors in MEN 1

A

Dermal tumors
Angiofibromas
Collagenomas
Lipomas

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

How MEN 2 occur?

A

Autosomal dominant mutation of RET proto-oncogene (just need one hit)

Once activated you now have this receptor forever that causes proliferation of cells

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

What kind of tumors occur with MEN Type 2A?

What is a definitive treatment

A

Medullary thyroid CA
Pheochromocytoma
Hyperparathyroidism

Total Thyroidectomy by 5-6 years old

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

What kind of tumors occur with MEN Type 2B

A

Medullary thyroid CA
Pheochromocytoma
Multiple neuromas
Marfanoid habitus

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

What are Pheochromocytomas?

Where do they mostly occur

A

tumors that secrete excess catecholamines (Epi or Epi/NE)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

How do Hyperparathyroid-Jaw Tumor Syndromes occur?

A

associated with germline inactivating mutation of the
CDC73/HRPT2 tumor suppressor gene

Results in loss of parafibromin tumorsuppressor protein function

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Where do Hyperparathyroid-Jaw tumor Syndrome occur?

A

Parathryoid, jaw, kidney, uterus

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

What is another name for Hyperparathyroidism-Jaw Tumor Syndrome?

A

Cemento-Ossifying Fibroma of the Maxilla

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

What are findings that are common in HPT-JT syndrome?

A

Adenomas

Frequent cystic tumors

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

How do Von Hippel-Lindau syndromes occur?

A

Autosomal Dominant disorder of VHL tumor-suppressor gene

20
Q

What are characteristics of Von Hippel Lindau syndrome?

A

Up to 50% of patients will have bilateral pheochomocytomas

NE producing tumors

21
Q

How do Neurofibromatosis type 1 occur

A

Inherited mutation of NF1-tumor suppressor gene

22
Q

What are clinical manifistations of Neurofibromatosis type 1?

A

Pheochromocytoma (2-5%) (EPI & NE producing tumors)

Neurofibromas (2 or more)

Optic glioma
Lisch nodules (iris hamartomas, 2 or more)

*Cafe-au-lait macules (6 or more)

23
Q

What are Succinate Dehydrogenase related Pheochromocytomas

A
  1. PHEOs in younger age
  2. PHEOs often exrtra-adrenal and metastatic
  3. PHEOs may secrete only dopamine
24
Q

What is the different between SDHB and SDHD Pheochromocytomas

A

SDHB:

  • > 95% extra-adrenal, often secrete NE and DA
  • Malignant at initial diagnosis
  • Fx 10%

SDHD

  • Most of them present as head and neck PGLs
  • Most do not secrete catecholamines and are 99% benign
25
Q

How do Carcinoid syndromes come about?

A

Due to tumor secretion of serotonin and other vasoactive peptides (histamine, prostaglandins

26
Q

What are clinical symptoms from Carcinoid syndrome?

A

Flushing
Diarrhea
Wheezing
Right sided valvular heart diseas

27
Q

What are test can be used to diagnose Carcinoid syndrome

A

Urinary excretion of 5-HIAA (serotonin metabolite)

28
Q

What do Gastrinomas cause a rise in?

A

Gastrin –> hormone that stimulates gastric acid secretions

29
Q

What are signs and symptoms of Gastrinomas

A

Zollinger-Ellison syndrome

Abdominal pain
Peptic ulcers
Gastroesophageal reflux
Diarrhea

30
Q

What test can be used to detect Gastrinomas

A

Very high gastrin and low stomach pH

Secretin Test:
Normal response= Gastrin decreases
Response in gastrinoma=Gastrin rises

31
Q

Where do Insulinomas occur

A

Neuroendocrine tumor of the pancreas derived from beta cells

32
Q

What is the most common symptom from Insulinomas

A

Hypoglycemia

High insulin in the face of low blood glucose

33
Q

What is Whipples triad and what does this indicate

A

Used to diagnose Insulinomas

  1. Fasting hypoglycemia
  2. Neuroglycopenia symptoms (confusion, h/a, blurred vision, seizures, amnesia, coma)
  3. Improves after glucose replacement
34
Q

Elevated labs seen in Insulinomas

A

Insulin,
c-peptide,
proinsulin levels are not suppressed with hypoglycemia

35
Q

How are Insulinomas diagnosed?

A

72 hour fast

NPO except non-caloric beverages and essential medications

End test when patient has plasma glucose < 50 mg/dl with neuroglycopenic symptoms or 72 hours elapse

36
Q

How can insulinomas be detected with imaging

A
  1. Triphasic CT Abdomen

2. Endoscopic ultrasound (wire with light)

37
Q

If you can’t locate an insulinomas what other imaging tool can you use to detect the tumor

A

Calcium Stimulated arteriogram

injection of calcium stimulates release of insulin so you can detect where insulin is secreted the highest in the pancreas

38
Q

Treatment for Insulinomas?

A

Surgical removal

39
Q

What medical agents can be used to treat insulinomas?

A

Frequent snacking to avoid prolonged fasting

Diazoxide- acts directly on beta cells to suppress insulin secretion

Ocreatide- somatostatin analog, use if hypglycemia refractory to diazoxide

40
Q

What is characteristic of VIPoma (Vasoactive Intestinal Peptide tumor)?

A

WHDA syndrome

Watery diarrhea
Hypokalemia
Achlorhydria (hypochlorhydria)

41
Q

How are VIPoms tested?

A

VIP levels

42
Q

What is a clinical manifistation of a Glucagonoma

A

Migratory necrolytic erthema

Hyperglyemia

43
Q

What test can be used to diagnose Glucagona

A

Test glucagon levels

44
Q

What is being secreted in Somatostatinomas?

How can this be tested for?

A

Somatostatin

Somatostatin levels

45
Q

If biochemical tests are positive for Somatostatins what must you do next?

A 
Pursue imaging:
CT scan
or MR
or PET
Octreoscan
46
Q

What syndromes can occur from Somatostatinomas

A

Diabetes
Gallbladder disease
Diarrhea

47
Q

Which cells can MEN 1 tumors disperse through?

A

Gastrin cells (located in duodenal submucosa maybe?)

Foundations 3 (25 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions