Neurofibromatosis

Question 1

NF involve ____ what are diseases?

Answer 1

Tumor suppressor genes

NF 1, NF2, Schwannomatosis

Question 2

NF tumors begin in

Answer 2

Non-neuronal cells (nerve sheaths)

Question 3

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

Answer 3

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

Both Complete penetrance with variable expression and autosomal dominant

Question 4

Which is more common , 1 or 2?

Answer 4

1

Question 5

Neurofibromin normal function

Answer 5

Convert Ras active to inactive…

Question 6

What can RAS signal?

Answer 6

RAF, PI3K

Question 7

Merlin normal function

Answer 7

Blocks mTOR, YAP, and Rac 1

Question 8

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

Answer 8

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

Question 9

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

Answer 9

Not in 1

Found in 2

Question 10

Periheral nerve tumors 1 vs. 2

Answer 10

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

Question 11

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

Answer 11

1 - All

2 - all but macrocephaly and short stature

Question 12

Osseous lesions and scoliosis 1 vs. 2

Answer 12

1 - present

scoliosis - not

Question 13

Clinical creteria for NF1

Answer 13

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