Schwannomatosis

Question 1

Genetic subtype

Answer 1

1-SMARCB1 schwannomatosis
2-LZTR1 schwannomatosis 2:
Both CHF 22q11

Question 2

Dx

Answer 2

> 2 pathology prove schwannomas or meningiom + genetic testing LOH for ch 22 +2 NF2 mutation +/- SMARCB1 mutation
Or
One pathology proven schwannoma or meningioma AND germline SMARCB1 pathogenic mutation

Question 3

not qualify for the diagnosis of schwannomatosis2

Answer 3

1-germline pathogenic NF2 mutation
2-fulfills NF2
3-1st degree relative NF2
4-previous field of radiation therapy