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CNS Flashcards

1
Q

medulloblastoma subgroups, epi, associated mutations, px

A

WNT (10%): CTNNB1, monosomy 6, DDX3X, APC
- best px, >90%

SHH (30%): PTCH1, PTCH2, SMO, SUFU, TP53
- 75% desmoplastic/nodular (TP53 WT) - OS 80%
- LC/A OS <50%

Group 3 (25%): i17q, MYCN amp (15%)
- worst px, 50-70% (worse with MYCN)

Group 4 (40%): i17q, MYCN amp, CDK6 amp
- 75%

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2
Q

medulloblastoma histo subgropus

A

classic
desmoplastic/nodular
extensive nodularity (MBEN)
large cell/anaplastic

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3
Q

Medulloblastoma staging

A

post op MR brain/spine
CSF 14d post op

M0: none
M1: CSF +
M2: gross nodular seeding subarachnoid
M3: gross nodular seeding spinal subarachnoid
M4: extraneural mets

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4
Q

Medulloblastoma risk stratification and associated px

A

Average: M0, <1.5 cm2 residual, undifferentiated histo, >3yo
- 5yDFS >80%

High
- 5yOS 40-6%
- <3yo except MBEN which ash excellent px

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5
Q

craniopharyngioma px factors

A

extent of resection (goal GTR)
younger age

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6
Q

craniopharyngioma tx

A

Controversial

maximal safe resection
- high perioperative M+M
STR -> RT

Omira reservoir (cyst drainage)
intracystic decompression and chemo (interferon alpha, bleo)
peglyated interferon alpha
BRAFi

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7
Q

CNS tumors dx without biopsy

A

DIPG: imaging expansile pons
NSGCT: bHCG/AFP
Optic pathway glioma in NF1

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8
Q

Pilocytic astrocyoma mutations

A

BRAF-KIAA1549 fusion (60-80%
BRAF V600E (10-15%)

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9
Q

CNS GCT tumor markers

A

Choriocarcinoma: bHCG
NGGCT: bHCG, AFP
embryonal carc or yolk sac: AFP
syncytiotrophoblastic germinoma: bHCG

pure germinoma or mature teratoma: negative all

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10
Q

CNS germinoma 2nd look indications

A

residual disease (>1.5cm)
progressive disease w normal tumor markers

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11
Q

CNS germinoma vs NGGCT tx, px

A

Germinoma:
- biopsy
- chemo x4 (carbo/etop)
- +- 2nd look
- response based RT, minimum whole ventricular

NGGCT:
- optional biopsy (nonsecreting)
- chemo x6
- CSI if no viable tumor
- HDC + ASCT if viable tumor

Germinoma 5yDFS >90%
NGGCT: EFS 80-90%

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12
Q

ependymoma px factors

A

Poor:
- <GTR
- no RT
- younger age
- PF-A 1q gain
- 6q loss
- anaplastic histo
- PF-A and RELA

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13
Q

ependymoma grading

A

grade I: subependymoma; rare in children
grade I: myxopapillary
grade II: papillary, clear cell, tancytic
grade II-III: RELA fusion, anaplastic

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14
Q

CNS elevated bHCG DDx

A

syncytiotrophoblastic germinoma
choriocarcinoma
mixed GCT
NGGCT (with AFP)
immature teratoma

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15
Q

CNS elevated AFP DDx

A

NGGCT (w bHCG)
embryonal carcinoma
yolk sac tumor
mixed GCT
immature teratoma

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16
Q

midline posterior fossa mass DDx

A

medulloblastoma (more likely group 3 or 4)
DIPG
glioma
CNS GCT

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17
Q

NF1 optic pathway glioma mutation and tx

A

BRAF V600E

vinblastine
carbo/VCR
MEK inhibitor (trametinib)
BRAF inhibitor (vemurafenib)

if not NF1:
TPCV: thio, procarbazine, CCNU, VCR

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18
Q

Ependymoma mutations and tx

A

PF-A: 1q gain, 6q loss
Supratentorial: RELA fusion, YAP1 fusion

GTR –> RT (focal 59.4 Gy)

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19
Q

Medulloblastoma px by subgroup

A

1) WNT: >90%
2) SHH: 80% if desmoplastic/nodula, <50% if LC/A
3) Group 4: 75%
4) Group 3: 50-70%

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20
Q

Medulloblastoma tx (incl RT doses)

A

GTR

adj RT
- CSI 23.4 Gy (if mets 36 Gy)
- involved field boost to 54 Gy

adj chemo: VCR, carbo, cyclo, etop, cisplat, MTX

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21
Q

DIPG imaging findings

A

midline
>50% of pons
hyperdense
MR hyperintense (dark T1, bright T2)

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22
Q

DIPG mutation if biopsied

A

H3K27M mutation (80-90%
H3K27me3

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23
Q

DIPG tx and px

A

palliative RT: focal 54Gy
symptomatic CS

median survival 10 mo

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24
Q

posterior fossa syndrome features

A

onset 1-3d post op, peak 2w

mutism (transient)
emotional lability
hypotonia
oropharyngeal dysfxn
dysphagia
CN palsies

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25
RT S/E acute, subacute, late
acute: fatigue, N/V, skin/hair, h/a subacute: somnolence, pseudoprogression, edema late - brain necrosis - SMN: glioma, meningioma, 4-5% at 10y cognitive - ototox - cerebrovascular disease - endo: GH defic, delayed puberty - infertility
26
HGG mutations
H3K27 mutation adolescents: IDH1 mutation
27
CNS tumor epi
Astrocytoma 40-50% medullo 20% ependymoma 10% HGG 10% craniopharyngioma 5-10% choroid plexus 1-2% ATRT 1-2% GCT 1-3%
28
cerebral hemisphere tumor DDx
glioma meningioma ETMR (previously PNET) anaplastic astrocytoma
29
pineal tumor DDx
GCT (until proven otherwise) pineoblastoma astrocytoma
30
sellar/suprasellar tumor DDx
craniopharyngioma GCT optic glioma
31
cerebellar tumor DDx
medullo ependymoma cerebellar astrocytoma (JPA)
32
brain stem tumor DDx
medullo JPA ETMR (previously PNET)
33
infant posterior fossa tumor DDx
medullo DIPG LGG Ependymoma ATRT
34
ventricular tumor DDx
CPP CPC neurocytoma
35
spinal cord tumor DDx
astrocytoma ependymoma extradural: NBl, ewing, neurofibroma
36
NF2 CNS tumors
acoustic schwannoma (bilat) meningioma ependymoma
37
LFS CNS tumors
medullo GBM HGG
38
FAP (Turcot) CNS tumors
medullo (WNT) GBM HGG PNET
39
Gorlin CNS tumors
desmoplastic medullo meningioma BCC
40
T21 and Klinefelter CNS tumors
germinoma
41
DICER-1 CNS tumor
pineoblastoma
42
ATRT px factors
poor <3yo infratentorial disseminated germline mutation (SMARCB1)
43
myxopapillary ependymoma features and tx
WHO Grade 1 classically at conus GTR + RT
44
define parinaud syndrome, and DDx
bilateral upgaze palsy convergence nystagmus light near dissociation lid retraction (Collier sign) GCT (germinoma) choriocarcinoma immature teratoma
45
LGG path and DDx
WHO I-II lack of aggressive features pilocytic astrocytoma SEGA ganglioglioma oligodendroglioma DNET (dysembryoplastic neuroepithelial tumor) DIG (desmoplastic infantile ganglioglioma)
46
LGG locations
cerebellum (15-25%) cerebral (10-15%) deep midline (10-15%) optic pathway (5%) brainstem (2-4%)
47
LGG staging
MR head/spine Biopsy - not if NF-1 (no CSF) no metastatic potential
48
LGG genetics and targeted tx
BRAF-KIAA1549 fusion BRAF V600E MEK or BRAF inhibitor
49
LGG tx, px
GTR STR --> weekly vinblastine carbo/VCR MEK/BRAF inhibitor NF1: observation SEGA: mTOR GTR 5yPFS >90%
50
HGG tx
resection focal RT +- chemo - ?VCR/carbo
51
Ependymoma tx
GTR RT - focal or CSI if CSF+
52
NF1 OPG epi
NF-1: 15-20% have LGG OPG: 70% have NF-1
53
Diencephalic syndrome
diencephalon location typically young children happy FTT hyperkinesis macrocephaly neuro: visual field defect, endocrine dysfxn, behaviour change, h/a
54
2yo with 4 mo of FTT NYD. Recent vomiting and nystagmus. MRI reveals large hypothalamic mass with associated hydrocephalus. Syndrome?
Diencephalic syndrome
55
List high grade gliomas
anaplastic astrocytoma anaplastic oligodendroglioma GBM mixed glial tumors DIPG pleomorphic xanthoastrocytoma
56
LGG vs HGG locations
LGG: 20% cerebellar; hemispheric, optic pathway, brainstem HGG: hemispheric, midline
57
HGG predispositions
GBM: NF-1, LFS, Turcot Anaplastic astrocytoma: NF-1, LFS, Turcot, TS Hx RT
58
GBM imaging
thick irregular margin necrotic core +- hemorrhage
59
Craniopharyngioma imaging
sellar/suprasellar rim calcifications cystic enhancing
60
ATRT histopathology
SRBC loss of INI-1 (SMARCB1) Germline SMARCB1 mutation 35% (80% <1yo)
61
EMRT epi, tx, px
presentation ~3yo 2/3 supratentorial 1/2 mets max safe resection CSI HD chemo w ASCT very poor - 5yOS 15-35%
62
ATRT epi, ix
median age 1y (2/3 <3yo) anywhere in brain 30% mets (including kidney, skin, liver) MR brain and spine CSF AUS
63
ATRT tx, px
GTR +-2nd look chemo +-HD chemo w ASCT RT (CSI if disseminated) 4yEFS 37%, OS 43%
64
pineoblastoma location, presentation, genetics, px
supratentorial hydrocephalus, Parinaud RB1, DICER1 germline OS 50-60%
65
choroid plexus tumor location
75% lateral ventricle 15% 4th ventricle 10% 3rd ventricle
66
CPP vs CPC grade, tx
CPP: grade I aCPP: grade II CPC: grade III-IV (20-40%) CPP: Sx (GTR alone) aCPP: Sx -> chemo CPC: - Sx - +-2nd look - chemo (ICE) - +- RT if
67
GCT location + presentation, mets?
50% pineal (Parinaud syndrome) 40% suprasellar (DI, altered puberty, visual defect) mets 30%
68
Ependymoma location, mets
anywhere 70% infratentorial 30% supratentorial rare spinal 10-15% mets
69
Ependymoma px factors
poor: subtotal resection PF-A +1q -6q younger anaplastic less/no RT
70
Ependymoma tx, px
GTR focal RT (CSI if disseminated) EFS 60-80% - PF-A worse (PFS 33% OS 70%) - PF-B better (PFS 63% OS 100%) - YAP1 better (PFS 66%, OS 100%) - RELA worse (PFS 30% OS 75%
71
DIPG presentation
triad - long tract signs - contralateral CN palsy - ataxia
72
neuro GCT px
Good risk >90% - germinoma, mature teratoma int px 70% poor risk 40% - choriocarcinoma, yolk sac, embryonal
73
which CNS tumors need CSF for staging
MEGA: - Medullo - Ependymoma - GCT - ATRT
74
summarize ependymoma
10% peds CNS infant PF, old supratentorial mets 10-15% PF-A, PF-B, RELA, YAP1 GTR -> focal RT (CSI if CNS+) px 60-80% Poor px: PF-A, YAP1, +1q, -6p
75
choroid plexus imaging
nonobstructive hydrocephalus cauliflower appearance ++ enhancement
76
CPC genetics
25-45% TP53

H/O RC (31 decks)

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