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Foundations Test 1 > Neurofibromatosis > Flashcards

Flashcards in Neurofibromatosis Deck (13)
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1

NF involve ____ what are diseases?

Tumor suppressor genes
NF 1, NF2, Schwannomatosis

2

NF tumors begin in

Non-neuronal cells (nerve sheaths)

3

NF1 vs. NF2 genes, proteins, inheritance, penetrance/expression

NF1 - NF1 gene (neurfibromin protein), GTPase activating protein
NF2- NF2 gene (merlin), cytoskeletal protein

Both Complete penetrance with variable expression and autosomal dominant

4

Which is more common , 1 or 2?

1

5

Neurofibromin normal function

Convert Ras active to inactive...

6

What can RAS signal?

RAF, PI3K

7

Merlin normal function

Blocks mTOR, YAP, and Rac 1

8

Cafe au-lait macules , axillary freckling, lisch nodules, glioma 1 vs. 1

95% cafe - 1
40% cafe - 2
Axillary, lisch, and optic glioma not present in NF2

9

Cataracts, vestbiular schwannomas, meningeomas, and extramedullary spinal tumors 1 vs. 1

Not in 1
Found in 2

10

Periheral nerve tumors 1 vs. 2

1 - 99% have mutliple neurofibromas
30% plexiform
2 -50% shwannoma, glioma, neurofibroma

11

Macrocephaly, short stature, learning disability, behavior 1 vs. 2

1 - All
2 - all but macrocephaly and short stature

12

Osseous lesions and scoliosis 1 vs. 2

1 - present
scoliosis - not

13

Clinical creteria for NF1

6+ cafe au lait
2+ neurofibromas (or 1 plexiform)
Freckling in axillary or inguinal
Optic glioma
2+ lisch nodules
Distinctive osseous lesion
First-degree relative