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Pathology > Molecular/Genetics > Flashcards

Molecular/Genetics Flashcards

1
Q

Pleomorphic adenoma

A

PLAG1

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2
Q

Mucoepidermoid Ca

A

CRTC1-MAML2

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3
Q

Secretory Ca

A

ETV6-NTRK3

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4
Q

Adenoid cystic ca

A

MYB overexpression ( MYB-NFIB fusion)

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5
Q

Polymorphous low grade AdenoCa

A

PRKD1 fusion

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6
Q

Basal cell adenoma/AdenoCa

A

CTNNB1 mutation

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7
Q

Clear cell carcninoma (salivary)

A

EWSR1

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8
Q

Congenital mesoblastic nephroma, cellular variant

A

ETV6-NTRK3

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9
Q

Infantile fibrosarcoma

A

ETV6-NTRK3

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10
Q

Embryonal Tumour with Multilayered Rosettes

A

C19MC amplified

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11
Q

Well diff liposarc and De-diff liposarc

A

MDM2 amplification

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12
Q

Myxoid liposarcoma

A

FUS-DDIT3 fusion

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13
Q

Low grade fibromyxoid sarcoma

A

FUS-CREB3L2 fusion

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14
Q

Angiomatoid fibrous histiocytoma

A

EWSR1-CREB1 fusion

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15
Q

Synovial sarcoma

A

SSX-SS18 fusion

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16
Q

Clear cell sarcoma

A

EWSR1-ATF1

17
Q

Extra-skeletal myxoid chondrosarcoma

A

EWSR1-NR4A3

18
Q

DSRCT

A

WT1-EWSR1

19
Q

Ewings sarcoma

A

EWSR1-FLI1 or EWSR1-ERG

20
Q

Alveolar soft part sarcoma

A

TFE3

21
Q

Intramuscular myxoma

A

GNAS

22
Q

spermatocytic tumour

A 
CD117+
SALL4+
NSE+
CK18+
Neg: Oct3/4, PLAP, B HCG, AFP, CEA
23
Q

GCNIS

A

OCT3/4 and D2-40 + (normal germ cells negative)

24
Q

Fibrous dysplasia

A

GNAS mutation

25
Q

Osteoblastoma

A

FOS and FOSB

26
Q

ABC

A

USP6

27
Q

Mesenchymal chondrosarcoma

A

HEY1-NCOA2

28
Q

Epithelioid haemangioendothelioma

A

CAMTA1

29
Q

Pulmonary LCH

A

BRAF V600E

30
Q

Gastroblastoma

A

MALAT1-CLI fusion

31
Q

Fibrous dysplasia

A

GNAS mutations

32
Q

Osteoid osteoma/Osteoblastoma

A

FOS rearrangement

33
Q

Solid pseudopapillary tumour

A

CTNNB1 mutation

34
Q

Paediatric ependymoma

A

RELA fusion

35
Q

High grade meningioma

A

BAP1 loss

36
Q

Clear cell ependymoma

A

RELA fusion - tested using IHC for L1CAM IHC

Pathology (3 decks)

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