Brain Tumor Genetic Disorders Flashcards
Mutation of TP53 (ch 17).
Li-Fraumeni syndrome
Brain tumor types with Li-Fraumeni.
Glioma
- Astrocytoma
- Medulloblastoma
Mutation in TSC1 (ch9) and TSC2 (ch16).
Tuberous sclerosis
Brian tumor types with Tuberous sclerosis.
*Subependymal Giant Cell Astrocytoma
Cortical Tubers
Glioma
What is the mnemonic for Tuberous Sclerosis?
HAMARTOMAS: Hamartomas in CNS and skin Angiofibromas Mitral regurgitation Ash-leaf spots Rhabdomyoma (cardiac) Tuberous Sclerosis dOminant Mental retardation Angiomyolipoma (renal) Seizures/Shagreen patches
What chromosome is NF1 located on?
17q11
What chromosome is NF2 located on?
22q12
What brain tumors are associated with NF type 1?
*Glioma (optic nerve)
Astrocytoma
Glioblastoma
Ependymomas
What brain tumors are associated with NF type 2?
*Schwannoma (bilateral acoustic neuromas)
Meningioma
Ependymomas
What does NF1 code for?
neurofibromin (negative regulator of Ras)
What chromosome is RB1 located on?
13q14
What chromosome is VHL located on?
3
What tumors are seen in Von Hippel Lindau disease?
Hemangioblastomas
What does VHL do?
if mutated, it allows constitutive expression of HIF and activation of angiogenic growth factors
What is the mutation in Gorlin syndrome (nevoid basal cell carcinomas)?
PTCH mutations
What type of brain tumor is seen in those with Gorlin syndrome?
medulloblastoma
What is the mutation in Cowden syndrome?
loss of function in PTEN (leading to hyperactivity of mTOR pathway)
What types of brain tumors are seen in Cowden syndrome?
Dysplastic gangliocytoma of cerebellum
What is the mutation in Turcot syndrome?
germline mutation in APC gene or mismatch repair in hMLH1 or hPMS2
What types of brain tumors do patients with Turcot syndrome get?
Medulloblastomas
Glioblastoma multiforme
