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msk2 > 26 genes > Flashcards

26 genes Flashcards

1
Q

↓ EXT1, EXT2

A
  • Osteochondroma (exostosis)

- Multiple Hereditary Exostosis Syndrome

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2
Q

LOF chr 1q42 (fumarate hydratase - Krebs cycle enzyme).

A

leiomyoma

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3
Q

t(12;16)

A

myxoid liposarcoma

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4
Q

inacticating OPG mutations

A

Pagets dis (osteitis deformans)

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5
Q

mutations of COL1A1 and COL1A2 mutations (Α1 and α2 chains of type I collagen)

A

osteogenesis imperfecta

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6
Q

CDK4

A

osteosarcoma

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7
Q

MDM2

A

osteosarcoma

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8
Q

HOXD13

A

brachydactly D and E

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9
Q

TP53

A

osteosarcoma

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10
Q

USP6 overexpression

A

Aneurysmal Bone Cyst (ABC)

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11
Q

SQSTM1

A

familial Pagets dis (osteitis deformans)

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12
Q

CA2

A

osteopetrosis

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13
Q

↓ or abnormal synthesis of glycosaminoglycans

A

Osteochondroma (exostosis)

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14
Q

GoF FGFR3, from paternal

A
  • achondroplasia

- Thanatophoric dysplasia (but diff)

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15
Q

HER2

A

osteosarcoma

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16
Q

IDH-1 and IDH-2 - mosaics

A

chondroma

17
Q

t(x;18) → SS18 - SSX1/SSX2/SSX4

A

synovial sarcoma

18
Q

INK4a

A

osteosarcoma

19
Q

LoF RUNX2

A

cleidocranial dysplasia

20
Q

APC or β-catenin mutations = ↑ Wnt signaling.

A 
Deep Fibromatosis (desmoid tumors)
--> if APC, then worry about Gardners synd
21
Q

GNAS1

A

polystotic Fibrous Dysplasia (Mccune albright synd)

22
Q

CLCN7

A

osteopetrosis

23
Q

RB

A

osteosarcoma

24
Q

MDM2

A

well-diff liposarcoma

25
Q

CDKN2A, IDH1/2 mutations

A

sporadic chondrosarcoma

26
Q

t(2;13) or t(1;13)

A

Alveolar Rhabdomyosarcoma

27
Q

FOXO1 fusion to PAX3 or PAX7

A

Alveolar Rhabdomyosarcoma

28
Q

activating RANK mutations

A

Pagets dis (osteitis deformans)

29
Q

EXT, IDH1/2 mutations

A

syndromic chondrosarcoma

msk2 (21 decks)

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