hereditary cancer syndromes Flashcards
1
Q
Li-Fraumeni
A
TP53 inactivation
gliomas (astrocytoma) and medulloblastoma
2
Q
tuberous sclerosis
A
subependymal giant cell astrocytoma
other gliomas
3
Q
NF1
A
optic gliomas: optic nerve astrocytoma (JPA)
glioblastoma, meningiomas, ependymomas
4
Q
NF2
A
bilateral acoustic neuromas
meningiomas, ependymomas
5
Q
MEN1
A
pituitary tumors
6
Q
VHL disease
A
hemangiomas and hemangioblastomas
7
Q
Turcot syndrome
A
APC or mismatch repair gene mutation->colon polyps
medulloblastomas and GBM
8
Q
Cowden
A
dysplastic gangliocytoma of cerebellum PTEN mutation (tumor suppressor of mTOR pathway)
9
Q
Gorlin syndrome
A
medulloblastoma
-also get Nevoid basal cell carcinomas
PTCH mutation
10
Q
which syndrome accounts for 25% of astrocytomas?
A
NF1
