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Neuropathology Boards 2022 > Characteristic Molecular Alterations > Flashcards

Characteristic Molecular Alterations Flashcards

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

A

Methylome

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
Q

Dysplastic cerebellar gangliocytoma (Lhermitte-Duclos disease)

A

PTEN alterations

26
Q

Extraventricular neurocytoma

A

FGFR genes alterations (FGFR1:TACC1)
IDH wildtype

27
Q

Supratentorial ependymomas

A

ZFTA (C11orf95) alteration
YAP1 alteration

28
Q

Posterior fossa ependymoma type A

A

Reduction of H3 p.K28me
Global DNA hypomethylation
Hypermethylation of CpG islands

29
Q

Spinal ependmyoma

A

NF2 alterations
MYCN alterations

30
Q

Medulloblastoma, WNT-activated

A

WNT pathway alterations

31
Q

Medulloblastoma, SHH-activated

A

SHH pathway alterations
TP53 alterations

32
Q

AT/RT

A

SMARCB1 alterations
SMARCA4 alterations

33
Q

Embryonal tumor with multilayered rosettes

A

C19MC alterations
DICER1 alterations

34
Q

CNS neuroblastoma

A

FOXR2 alterations

35
Q

CNS tumor with BCOR internal tandem duplication

A

BCOR alterations

36
Q

Desmoplastic myxoid tumor of the pineal region

A

SMARCB1 alterations

37
Q

Meningioma

A

NF2 alterations
AKT1 alterations
TRAF7 alterations
SMO alterations
PIK3CA alterations

38
Q

Secretory meningioma

A

KLF4 + TRAF7 alterations

39
Q

Clear cell meningioma

A

SMARCE1 alterations

40
Q

Papillary and rhabdoid meningioma

A

PBRM1 alterations
BAP1 alterations

41
Q

Anaplastic meningioma

A

TERT promotor mutation
Homozygous deletion of CDKN2A/2B
Loss of H3 p.K28me3

42
Q

Solitary fibrous tumor

A

NAB2:STAT6 fusion

43
Q

Meningeal melanocytic tumors

A

GNAQ, GNA11, PLCB4

44
Q

Meningeal melanocytic tumors (diffuse)

A

NRAS alterations

45
Q

Meningeal melanocytic tumors (circumscribed)

A

CYSLTR2 alterations

46
Q

Adamantinomatous craniopharyngioma

A

CTNNB1 alterations

47
Q

Papillary craniopharyngioma

A

BRAF alterations

Neuropathology Boards 2022 (12 decks)

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