Genetics Flashcards
1
Q
RB1 deletion
A
Retinoblastoma and
2
Q
Deletion of Ch 3p25.3
A
von Hippel-Lindau dx; retinal gngiomatosis
3
Q
Deletion of Ch 22q11.2
A
AT/RT- INI1/hSNF5, deletion is most common but occasionally caused by mutation
4
Q
Deletion of 9q21
A
p16 deletion, anaplastic meningioma
5
Q
NF1
A
von Recklinghausen’s disease. Neurofibromin 17q11.2 Autosomal dominant, with 100% penetrance. 50% of cases are sporadic. 10x more common than NF2. Neurofibromas (particularly plexiform), optic nerve gliomas, increased risk of CML and other malignancies
6
Q
BAF47
A
IHC marker for AT/RT (INI1 loss)
7
Q
AT/RT
A
Mutation or deletion of INI1 (detected by loss of BAF47 IHC positivity) or less frequently BRG1 mutation/deletion
