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Heme Onc Royal College > Brain tumours > Flashcards

Brain tumours Flashcards

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1
Q

what brain tumours are associated with NF2?

A

acoustic schwannomas, ependymomas, meningiomas

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2
Q

what brain tumours are associated with NF1?

A

LGG

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3
Q

what brain tumours are associated with p53 mutations?

A

HGG

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4
Q

what is the characteristic mutation in DIPG

A

H3 K27M

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5
Q

what three chemotherapy regimens are used in LGG?

A

carboplatin/vincristine, vinblastine alone,

thioguanine, procarbazine, CCNU, and vincristine (TPCV)

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6
Q

abnormalities of what pathway are found in LGG?

A

MAPK

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7
Q

what is the most common abnormality found in LGG?

A

BRAF KIAA1549 fusion (found in 60%)

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8
Q

what are the high-grade gliomas?

A

GBM (IDH wt, IDH mutant)
Anaplastic astrocytoma
DIPG (H3K27M mutant)

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9
Q

what are the low grade gliomas?

A

diffuse astrocytoma
pilocytic astrocytoma
PXA
SEGA

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10
Q

Top 3 brain tumours in childhood

A
  • gliomas
  • medulloblastoma
  • ependymoma
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11
Q

What condition predisposes to LGG? (name gene)

A

20% of patients with NF1 develop LGG (commonly OPG)

Gene: NF1 (17q11.2)

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12
Q

What does dabrafenib do?

A

BRAF inhibitor works in V600E mutated tumours

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13
Q

what does trametinib do?

A

MEK inhibitor works in KIAA1549 BRAF fusion

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14
Q

what tumour are patients with tuberous sclerosis predisposed to develop?

A

subependymal giant cell astrocytoma (SEGA)

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15
Q

what targeted treatment can you consider for SEGAs

A

sirolimus, everolimus (mTOR inhibitor)

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16
Q

what types of tumours do patients with LFS develop

A

Adrenocorticocarcinoma, HGG, sarcomas, choroid plexus carcinomas, medulloblastoma

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17
Q

what gene causes Gorlin syndrome?

A

PTCH1
aka nevoid basal cell carcinoma syndrome
increased risk of medulloblastoma (SHH-activated)

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18
Q

what conditions are due to mutations in APC

A

Familial adenomatous polyposis (gardner, turcot)

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19
Q

what is lynch syndrome

A

hereditary non-polyposis colorectal cancer (HNPCC), endometrial cancer, ovarian, stomach etc. Due to MMR

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20
Q

what germline mutations predispose to rhabdoid tumours

A

SMARCB1 (loss of INI1)

SMARCA4 (loss of BRG1)

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21
Q

six side effects of brain RT (early / late)

A
  • fatigue
  • rash
  • cognitive impairment
  • edema
  • parotitis
  • late: meningiomas, SMNs, endocrinopathies, cerebrovascular events, blindness , ototoxicity
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22
Q

most common locations of LGG

A

cerebellar, hemispheric, OPG

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23
Q

how do you stage a LGG

A

MRI brain (only do spine if there are concerning symptoms)

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24
Q

A LGG in cerebellum - what genetic aberration are you likely to find?

A

BRAF KIAA1549 fusion

74%) - less likely to be BRAF V600E (only 4% are in cerebellum

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25
Q

prognostic factors for LGG

A
  • GTR
  • location (optic nerve > optic pathway/chiasm)
  • mets
  • intracranial htn at presentation
  • nf1 (better outcomes)
  • BRAF KIAA1549 fusion (better)
  • BRAF V600E mutation (more invasive)
26
Q

chemo for LGG

A

carbo + vincristine
TPCV (thioguanine, procarbazine, CCNU, vincristine)
vinblastine monotherapy

27
Q

three brain tumours that do not need biopsy

A

DIPG
NGGCT (secreting)
OPG (NF1)

28
Q

tumours in what area can cause parinaud syndrome

A

tectum, pineal gland (midbrain) - caused by compression of the medial longitudinal fasiculus

29
Q

what conditions increase the risk of HGG?

A

p53
APC mutations (FAP)
exposure to RT

30
Q

prognostic factors for HGG

A 
H3K27M (poor)
IDH-1 mutant (favourable)
Histology (AA better than GBM)
H3 G34 mutations - intermediate prognosis, older cildren
BRAF V600E (PXA-like) - favourable
MYC-N amp - poor
31
Q

Chemo for HGG

A

Lomustine (CCNU), vincristine, prednisone

32
Q

how does DIPG present

A

short duration of symptoms, classic triad:

  • long tract signs
  • cranial nerve palsy
  • ataxia
33
Q

Treatment of craniopharyngioma

A
  • Maximal surgery
  • If GTR obtained; observe only
  • If
34
Q

What neuroendocrinopathies are seen with craniopharyngioma?

A 
growth hormone deficiency (in 100%)
amenorrhea
DI
adrenal insufficiency
hypothyroidism
35
Q

when do ATRTs present

A

Present in infancy, young children
75% in age < 3 yr of age
Most common malignant tumour in age <6m

36
Q

how do you stage ATRT

A

MRI brain/spine, CSF, renal US (to look for synchronous renal rhabdoid if high suspicion for germline mutation)

37
Q

what targeted therapy can be used to tumours with SMARCB1 mutations?

A

EZH2 inhibitors (tazemetostat)

38
Q

treatment of ATRT

A

GTR
RT
High dose chemotherapy with alkylators followed by stem cell rescue

39
Q

where do choroid plexus tumours present

A

usually lateral ventricles

40
Q

which GCTs secrete AFP?

A

yolk sac tumours

41
Q

which GCTs secrete b-HCG?

A

choriocarcinoma

42
Q

types of NGGCT

A 
choriocarcinoma
yolk sac tumour
teratoma
embryonal carcinoma
mixed
43
Q

where does ependymoma most commonly present

A

posterior fossa - 55% infratentorial

44
Q

genetic aberrations in supratentorial ependymoma

A

RELA positive (70% of supratentorial ependymomas), YAP1 fusion positive (young children, very good prognosis)

45
Q

what are prognostic features in ependymoma

A
  • gain of chr 1q (poor)
  • YAP fusion (good)
  • anaplastic
  • extent of resection
46
Q

RT in ependymoma

A

54 Gy - can be focal (no need for CSI unless multifocal tumour / disseminated disease)

47
Q

what are the four histologic patterns in medulloblastoma

A
  • classic
  • medulloblastoma with extensive nodularity (MBEN)
  • desmoplastic
  • anaplastic
48
Q

standard risk medullo

A

> 3 yrs
GTR < 1.5 cm3 residual
no metastasis
not anaplastic

49
Q

high risk medullo

A

> 1.5cm3 residual disease
mets by spine MRI or lumbar CSF
diffusely anaplastic histology

50
Q

medullo subgroups

A

Wnt-activated
Shh-activated
Group 3
Group 4

51
Q

what type of medullo affects infants

A 
Group 3 (most common)
Shh-activated
52
Q

Genetic aberrations in Wnt-activated medullo

A

beta-catenin (CTNNB1)
monosomy 6 (85%)
SMARCA4 (25%)
associated with germline APC mutations (rare, < 5%)

53
Q

Genetic aberrations in Shh-activated medullo

A

PTCH1, SUFU

Can have Myc-n amplification

54
Q

Genetic aberrations in group 3 medullo

A

can have myc-n amplification (15%)
SMARCA4 mutations (10%)
i17q
Often infants, metastatic at presentation

55
Q

Genetic aberrations in group 4 medullo

A

can have myc-n amplification
i17q enriched

can have whole chr 11 loss (good prognosis)

56
Q

what age group does better in Wnt-activated medullo?

A

< 16 yrs

57
Q

which medullo subgroup is associated with p53 mutations

A

Shh-activated

58
Q

treatment for SR medullo

A

GTR if possible
CSI with lower dose (23.4 Gy) with boost to posterior fossa + weekly VCR followed by maintenance cisplatin-based chemotherapy

59
Q

treatment for HR medullo

A

GTR if possible
CSI with regular dose (36 Gy with boost to post fossa to 54 Gy) + weekly VCR followed by maintenance chemo (cisplat, VCR, cyclo)

60
Q

other tumours with BRAF V600E mutation or KIAA1549 fusion

A
  • melanomas (Spitzoid)
  • papillary thyroid cancers
  • acinar pancreatic carcinomas
  • non-small‐cell lung cancers
  • colorectal cancers
  • papillary craniopharyngioma
61
Q

what genetic aberration is seen in craniopharyngioma in children

A

activating mutations of beta-catenin

62
Q

non-surgical options in craniopharyngioma management

A
  • Radiotherapy
  • Intracystic therapy - ie, Interferon-α 2a, bleomycin
  • Cyst drainage (can be done via ommaya)
  • Systemic interferon (generally for recurrent cranio)

Heme Onc Royal College (30 decks)

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