Characteristic Molecular Alterations Flashcards

(47 cards)

1
Q

Adult type Astrocytoma

A

IDH1/IDH2 mutation

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2
Q

Oligodendroglioma

A

IDH1/IDH2 mutation + Loss of 1p/19q

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3
Q

Glioblastoma

A

IDH wild type
+7/-10
TERT mutation
EGFR amplification

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4
Q

Pediatric diffuse astrocytoma

A

MYB, MYBL1 alteration

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5
Q

Angiocentric glioma

A

MYB alteration

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6
Q

PLNTY

A

BRAF and FGFR alterations

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7
Q

Diffuse low-grade glioma (pediatrics)

A

MAPK pathway altered

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8
Q

Diffuse midline glioma

A

H3 p.K28 (K27) altered
EGFR and EZHIP alterations

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9
Q

Diffuse hemispheric glioma

A

H3 p.G34 (G34) mutant

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10
Q

Diffuse pediatric type high grade glioma

A

H3 wild type + IDH wildtype
Methylome

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11
Q

Infant type hemispheric glioma

A

RTK gene alteration

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12
Q

Pilocytic astrocytoma

A

KIAA1549:BRAF fusion
BRAF alterations

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13
Q

High grade astrocytoma with piloid features

A

Methylome

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14
Q

PXA

A

BRAF alteration
CDKN2A alteration

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15
Q

SEGA

A

TSC1
TSC2

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16
Q

Chordoid glioma

A

PRKCA alteration

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17
Q

Astroblastoma

A

MN1 altered
BEND2 alterations

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18
Q

Granular cell tumors

A

BRAF alterations

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19
Q

DNET

A

FGFR1 alterations

20
Q

Diffuse glioneuronal tumor with oligodendroglioma-like features and nuclear clusters

21
Q

Papillary glioneuronal tumor

A

SLC44A1-PRKCA fusión

22
Q

Rosette-forming glioneuronal tumor

A

FGFR1 alterations
PIK3CA alterations
NF1 alterations

23
Q

Myxoid glioneuronal tumor

A

PDGFRA alteration

24
Q

Multinodular and vacuolating neuronal tumor

A

MAPK pathway alterations

25
Dysplastic cerebellar gangliocytoma (Lhermitte-Duclos disease)
PTEN alterations
26
Extraventricular neurocytoma
FGFR genes alterations (FGFR1:TACC1) IDH wildtype
27
Supratentorial ependymomas
ZFTA (C11orf95) alteration YAP1 alteration
28
Posterior fossa ependymoma type A
Reduction of H3 p.K28me Global DNA hypomethylation Hypermethylation of CpG islands
29
Spinal ependmyoma
NF2 alterations MYCN alterations
30
Medulloblastoma, WNT-activated
WNT pathway alterations
31
Medulloblastoma, SHH-activated
SHH pathway alterations TP53 alterations
32
AT/RT
SMARCB1 alterations SMARCA4 alterations
33
Embryonal tumor with multilayered rosettes
C19MC alterations DICER1 alterations
34
CNS neuroblastoma
FOXR2 alterations
35
CNS tumor with BCOR internal tandem duplication
BCOR alterations
36
Desmoplastic myxoid tumor of the pineal region
SMARCB1 alterations
37
Meningioma
NF2 alterations AKT1 alterations TRAF7 alterations SMO alterations PIK3CA alterations
38
Secretory meningioma
KLF4 + TRAF7 alterations
39
Clear cell meningioma
SMARCE1 alterations
40
Papillary and rhabdoid meningioma
PBRM1 alterations BAP1 alterations
41
Anaplastic meningioma
TERT promotor mutation Homozygous deletion of CDKN2A/2B Loss of H3 p.K28me3
42
Solitary fibrous tumor
NAB2:STAT6 fusion
43
Meningeal melanocytic tumors
GNAQ, GNA11, PLCB4
44
Meningeal melanocytic tumors (diffuse)
NRAS alterations
45
Meningeal melanocytic tumors (circumscribed)
CYSLTR2 alterations
46
Adamantinomatous craniopharyngioma
CTNNB1 alterations
47
Papillary craniopharyngioma
BRAF alterations