brain tumors

Question 1

Li Fraumeni syndrome

Answer 1

AD mutation in TP53 on chromosome 17

Question 2

Tuberous sclerosis

Answer 2

AD mutation in TSC1 (chromosome 9) or TSC2 (chromosome 16)

Question 3

neurofibromatosis type 1 (von Recklinghausen’s disease)

Answer 3

AD mutation in NF1 on chromosome 17

Question 4

neurofibromatosis type 2

Answer 4

AD mutation in NF2 on chromosome 22

Question 5

multiple endocrine neoplasia type 1 (MEN1)

Answer 5

AD mutation in menin gene on chromosome 11

Question 6

retinoblastoma

Answer 6

AD mutation in RB1 gene on chromosome 13

Question 7

Von Hippel-Lindau disease

Answer 7

AD mutation in VHL gene on chromosome 3

Question 8

tumors associated with Li-Fraumeni syndrome

Answer 8

glioma, medulloblastoma

Question 9

tumors associated with tuberous sclerosis

Answer 9

subependymal giant cell astrocytoma, cortical tubers, glioma

Question 10

tumors associated with neurofibromatosis type 1

Answer 10

optic gliomas (juvenile pilocystic astrocytoma), astrocytoma, glioblastoma, ependymoma, meningioma

Question 11

tumors associated with neurofibromatosis type 2

Answer 11

bilateral acoustic neuroma (vestibular schwannoma)

Question 12

tumors associated with MEN1 syndrome

Answer 12

pituitary adenomas

Question 13

tumors associated with Von Hippel-Lindau disease

Answer 13

hemangioblastoma

Question 14

plateau wave phenomenon

Answer 14

after intracranial volume has reached threshold (as in tumor growth), small volume changes cause large increases in ICP; if ICP exceeds cerebral perfusion pressure, the patient may have multiple symptoms like focal weakness, numbness, mental status change, and seizure-like activity

Question 15

T1 weighted MRI

Answer 15

fluid is hypodense; injected contrast that leaks across the disrupted BBB within tumors appears hyperdense

Question 16

T2 weighted MRI

Answer 16

fluid is hyperdense; to differentiate edema from infiltrating tumor: edema spares the cortex but a tumor does not

Question 17

conformal radiation

Answer 17

beams of radiation are computer graphically designed to focus on tumor

Question 18

cowden syndrome

Answer 18

loss of function mutation in PTEN, a tumor suppressor gene, leading to the hyperactivity of the mTOR pathway

Question 19

cowden syndrome tumors

Answer 19

dysplastic gangliocytoma of the cerebellum

Question 20

nevoid basal cell carcinoma (gorlin syndrome)

Answer 20

mutations in the PTCH gene found on chromosome 9

Question 21

nevoid basal cell carcinoma associated tumors

Answer 21

medulloblastoma

Question 22

turcot syndrome

Answer 22

germline mutation in APC gene or mismatch repair genes MLH1 and PMS2

Question 23

turcot syndrome associated tumors

Answer 23

medulloblastomas, glioblastoma multiforme

Question 24

rosenthal fibers

Answer 24

JPA

Question 25

pseudopallisading around necrosis

Answer 25

GBM

Question 26

homor-Wright rosettes, angular nuclei

Answer 26

medulloblastoma

Question 27

perivascular pseudorosette

Answer 27

ependymoma

Question 28

medulloblastoma pathogenesis

Answer 28

SHH pathway activation via loss of PTCH loosing smoothened activation and Gli2 to go to the nucleus WNT pathway: frizzled un-phosphorylates b-catenin and it translocates to the nucleus

Question 29

brainstem glioma prognosis

Answer 29

uniformly fatal

Question 30

diffuse intrinsic pontine glioma classic triad

Answer 30

CST signs (weakness or hemiparesis), ataxia, CN defects (V, VI, VII, possibly VIII)

Question 31

engulfs basilar artery

Answer 31

diffuse intrinsic pontine glioma