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M2M Unit III > von Hippel-Lindau Disease > Flashcards

von Hippel-Lindau Disease Flashcards

1
Q

fibronectin

A

binds extracellular matrix proteins- important for cell adhesion, growth, migration, and differentiation

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2
Q

Hemangioblastoma

A

tumors of the CNS composed of stromal cells in small blood vessels

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2
Q

HIF is a _____ whose action is _____-dependent.

A

transcription factor; oxygen

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2
Q

Accumulation of HIF activates the transcription of ____, _____, and _____.

A

VEGF, PDGF and TGF alpha and beta.

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3
Q

What is the molecular defect in type 2C VHL disease?

A

decreased binding of fibronectin and defective fibronectin matrix assembly

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4
Q

What is the clinical action to take from age 16 and beyond in VHL pts?

A

annual physical, eye exam, ultrasound, and fractionated metanephrines; also ab and brain MRI; hearing exam every 2-3 years

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4
Q

What is the function of normal VHL protein?

A

it’s a tumor suppressor

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4
Q

In the presence of ____, HIF-alpha is ubiquitinated by VHL protein and undergoes proteosomal degradation.

A

normal wild type VHL

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5
Q

What is the VHL mutation in type 1 VHL disease?

A

total or partial loss resulting in improper folding

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6
Q

What is the clinical action to take from birth to age 4 in VHL pts?

A

annual eye/retinal exam; check for white pupils; check for neuro problems; check for abnormal blood pressure

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7
Q

Of all clear cell renal cell carcinomas, what percentage are due to VHL?

A

4% of all cases

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8
Q

Of all renal cell carcinomas, what percentage are conventional clear cell?

A

75%

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8
Q

Patients with VHL are at risk of developing of up to ___ tumors per kidney.

A

600

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8
Q

Under normal conditions, HIF-alpha is ______ by _____ and ______.

A

hydroxylated; proline; asparagine hydroxylase

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9
Q

BAP1 and PRBM1 are located on ____ and can also be mutated in _____.

A

Chr 3p; ccRCC

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10
Q

Cells with a mutated VHL gene behave as if they are ____ and ____ is not degraded.

A

under hypoxic conditions; HIF

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10
Q

VEGF-targeted therapy aims to block ____ and _____.

A

vasculogenesis; angiogenesis

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11
Q

What are the clinical manifestations of type 2B VHL disease?

A

Hemangioblastomas; renal cell carcinoma; pheochromocytomas

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12
Q

What is the molecular defect in type 2A VHL disease?

A

upregulation of HIF and inability to stabilize microtubules

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14
Q

What is the molecular defect in type 2B VHL disease?

A

upregulation of HIF

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16
Q

What is the VHL mutation in type 2B VHL disease?

A

missense mutation

17
Q

Pheochromocytoma

A

a neuroendocrine tumor of the medulla of the adrenal gland

18
Q

What are the clinical manifestations of type I VHL disease?

A

Hemangioblastomas; Renal cell carcinoma

20
Q

What is the incidence rate of VHL?

A

1:36,000

20
Q

What is the VHL mutation in type 2A VHL disease?

A

missense mutation

20
Q

What is the VHL mutation in type 2C VHL disease?

A

missense mutation

21
Q

_____ and ____ are located on Chr 3p and can also be mutated in ccRCC.

A

BAP1; PRBM1

23
Q

How is VHL inherited?

A

it’s autosomal dominant

24
Q

mTOR inhibitors act to block _____ and _____.

A

cell growth; angiogenesis

25
Q

fractionated metanephrines

A

metabolite of epinephrine circulating free in the plasma

26
Q

VHL is the most common cause of _____.

A

clear cell renal carcinoma (ccRCC)

28
Q

At what age should genetic testing for VHL pts be considered?

A

any age

30
Q

What is the molecular defect in type 1 VHL disease?

A

upregulation of HIF

31
Q

What are the clinical manifestations of type 2A VHL disease?

A

Hemangioblastomas

32
Q

VHL protein is part of a complex that ____.

A

selects proteins for degradation by ubiquitylation

34
Q

Sporadic ccRCC accounts for about ___% of all cases and is typically _____, _____, and has a _____.

A

96%; solitary, unilateral, later age of onset

35
Q

Name 3 treatment options for metastatic renal cell carcinoma.

A

1) immunotherapy 2) vascular endothelial growth factor inhibitors 3) mTOR inhibitors

36
Q

Name 8 processes regulated by HIF.

A

1) Angiogenesis 2) Erythopoeisis 3) Anaerobic glycolysis 4) Glucose uptake 5) Extracellular matrix turnover 6) pH control 7) Apoptosis 8) Mitogenesis

37
Q

_____ activates the transcription of VEGF, PDGF and TGF alpha and beta.

A

Accumulation of HIF

38
Q

What is the goal of surgical management for VHL?

A

to prevent metastasis while preserving renal function

39
Q

VHL is characterized by the formation of cystic and ______ tumors in many organs.

A

highly vascularized

40
Q

Where is the VHL gene located?

A

short arm of ch 3

41
Q

Where do hemangioblastomas usually occur?

A

in the cerebellum, brain stem or spinal cord

43
Q

What is the clinical action to take from 5 to age 15 in VHL pts?

A

annual physical and neuro exam; test for fractionated metanephrines; ab ultrasound; hearing tests; MRI w/ contrast of internal auditory canal

45
Q

Familial ccRCC accounts for about ___% of all cases and is typically _____, _____, and has a _____.

A

4%; multifocal, bilateral, early age onset

46
Q

___ is the most common cause of ccRCC.

A

VHL

47
Q

Cells with a _____ behave as if they are under hypoxic conditions and HIF is not _____.

A

mutated VHL gene; degraded

48
Q

In the presence of normal wild type VHL, ____ is ubiquitinated by _____ and undergoes proteosomal degradation.

A

HIF-alpha VHL protein

49
Q

What are the clinical manifestations of type 2C VHL disease?

A

Pheochromocytomas only

50
Q

Hematuria

A

blood in the urine

M2M Unit III (30 decks)

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