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Fellowship and boards study > Frequent Genetic Mutations > Flashcards

Frequent Genetic Mutations Flashcards

1
Q

Fibrous Dysplasia

A

GNAS

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2
Q

Osteogenesis Imperfecta

A

COL1A1, COL1A2

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3
Q

Cleidocranial Dysplasia

A

RUNX2 (CBFA1)

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4
Q

Paget Disease

A

SQSTM1

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5
Q

Cherubism (chromosome?)

A

SH3BP2, chromosome 4

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6
Q

Aneurysmal Bone Cyst (chromosome too?)

A

USP6, chromosome 7

and/or CDH11

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7
Q

Gnatho-diaphyseal dysplasia

A

GDD1

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8
Q

Hyperparathyroidism jaw tumor syndrome

A

HRPT2 (in OF)

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9
Q

Gardner Syndrome (chromosome too?)

A

APC, chromosome 5

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10
Q

Chondroma

A

IDH1

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11
Q

Soft tissue fibromatosis (Desmoid tumor)

A

CTNNB1- encodes beta-catenin

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12
Q

Neurofibromatosis Type 2..chromosome? protein?

A

NF2, Chromosome 22, merlin protein

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13
Q

Sturge-Weber Syndrome

A

GNAQ

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14
Q

Alveolar Soft-Part Sarcoma

A

t(X,17) resulting in ASPL-TFE3 fusion gene

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15
Q

Synovial Sarcoma

A

t(X,18) resulting in SS18-SSX fusion gene

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16
Q

Pleomorphic Adenoma

A

PLAG1

HMGA2

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17
Q

Secretory Carcinoma

A

ETV6-NTRK3 t(12,15)

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18
Q

HLA Heck’s DIsease & Purigo & Giant Cell Arteritis

A

HLA-DR4

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19
Q

Seborrheic Keratosis

A

FGFR3, PIK3CA

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20
Q

Ephelis (freckle)

A

MC1R

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21
Q

Acquired melanocytic nevus (mole)

A

BRAF

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22
Q

Actinic lentigo

A

FGFR3, PIK3CA

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23
Q

Spitz Nevus

A

HRAS

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24
Q

Blue Nevus

A

GNAQ

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25
Q

Basal cell carcinoma

A

TP53, SMO, PTCH

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26
Q

Congenital melanocytic nevus

A

NRAS

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27
Q

LADD (Lacrimo-auriculo-dento-digital)

A

FGF10

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28
Q

Cyclic neutropenia

A

ELA-2 (ELANE)

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29
Q

TTP Thrombotic thrombocytopenic purpura

A

deficiency in ADAMTS13 (von willebrand cleaving factor)

-either from autoantibodies to ADAM or inherited auto recessive mutation to ADAM

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30
Q

Polycythemia vera

A

JAK2

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31
Q

Chronic myeloid leukemia (CML)

A

9;22 BCR-ABL called the Philadelphia chromosome

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32
Q

LCH

A

BRAF

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33
Q

Burkitt Lymphoma

A

8;14 c-myc overexpression

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34
Q

Incontinentia pigmenti (inheritance?)

A

NEMO…X-linked DOMINANT (so females get it, males die)

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35
Q

Darier Disease

A

ATP2A2, encodes SERCA pump

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36
Q

Peutz-Jeghers

A

STK11 aka LKB1

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37
Q

HHT1 (chromosome?)

A

ENG; chromosome 9

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38
Q

HHT2 (2 names of the gene, what chromosome?)

A

ALK1 aka ACVRL1; chromosome 12

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39
Q

Hereditary Hemorrhagic Telangiectasia + Juvenile polyposis

A

MADH4

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40
Q

Tuberous Sclerosis (chromosome(s)?, which one is more common?)

A

TSC1; chromosome 9

TSC2; chromosome 16 MORE COMMON

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41
Q

Multiple hamartoma syndrome (Cowden)

A

PTEN; Chromosome 10

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42
Q

Epidermolysis Bullosa simplex

A

Keratin 5 and 14

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43
Q

Epidermolysis Bullosa junctional

A

Laminin-332
Type XVII collagen
Alpha 6 - Beta 4 integrin

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44
Q

Epidermolysis Bullosa dystrophic

A

Type VII collagen

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45
Q

Kindler syndrome

A

FERMT1, codes for kindlin-1

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46
Q

Van Der Woude

A

IRF6

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47
Q

Crouzan and Apert (chromosome?)

A

FGFR2; chromosome 10

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48
Q

Pachyonichia Congenita

A

Leukoplakia: keratin 6A

Neonatal teeth: Keratin 17

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49
Q

Lipoid proteinosis

A

ECM1

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50
Q

Mandibulofacial dysostosis (treacher collins)

A

TCOF1

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51
Q

Mucoepidermoid carcinoma

A

11;19

MAML2-CRTC1

52
Q

Adenoid cystic carcinoma

A

6;9

MYB-NFIB

53
Q

Acinic Cell carcinoma

A

HTN3-MSANTD3 fusion is a recurrent fusion event in the salivary gland AciCC but is found in <5% of cases

54
Q

Pierre-Robin Sequence

A

SOX9

55
Q

Digeorge syndrome

A

aka chromosome 22q11.2 deletion syndrome

56
Q

Papillon-Lefevre and Haim Munk (chromosome?)

A

Cathepsin C gene mutation, chromosome 11

57
Q

Nevoid basal cell carcinoma syndrome (chromosome?)

A

PTCH1; chromosome 9

58
Q

Nodular fasciitis

A

MYH9-USP6

FISH test available for USP6

59
Q

Clear cell odontogenic carcinoma

A

EWSR1 rearrangements

Most common: EWSR1-ATF1 >80%

60
Q

Calcifying epithelial odontogenic tumor

A

PTCH1

61
Q

Osteopetrosis

A

RANK or RANK-ligand

62
Q

Noonan syndrome

A

PTPN11

63
Q

Juvenile Ossifying Fibroma (psamommatoid variant)

A

trabecular variant: not specified

psamommatoid variant: X;2 translocation

64
Q

Hereditary retinoblastoma

A

RB1

65
Q

Chondrosarcoma

A

IDH1/2

66
Q

Ewing sarcoma

A

EWSR1-FLI1
11;22 translocation (EWSR1=Ch22, FLI1=Ch11)
EWS-FLI1 protein product

67
Q

Von recklinghausen disease of the skin

A

NF1, chromosome 17; neurofibromin protein

68
Q

Medullary thyroid carcinoma syndrome

A

RET, chromosome 10

69
Q

MEN2A (aka sipple syndrome)

A

RET, chromosome 10

70
Q

MEN2B

A

RET codon 918

71
Q

Paraganglioma

A

Succinate dehydrogenase

72
Q

Verruciform xanthoma

A

3BHSD

3-beta-hydroxysteroid dehydrogenase (3BHSD)

73
Q

Name 4 of the most common Tumor suppressor genes

A

TP53, pRb, p16, E-Cadherin

74
Q

Hemophilia type A

A

Factor 8 mutations

75
Q

White sponge nevus

A

Keratin 4 and 13

76
Q

Dyskeratosis congenita

A

DKC1

77
Q

Amelogenesis imperfecta: Whats the worst one?

A

AMELX, ENAM, MMP-20, KLK4, **FAM83H(worst one), WDR72, C4orf26, DLX3

78
Q

Dentiogenesis imperfecta

A

DSPP (also in dentin dysplasia type 2)

79
Q

Niemann-Pick Disease

A

NPC-1 NPC-2

80
Q

Vitamin D Resistant Rickets

A

PHEX

81
Q

APECED: autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome

A

AIRE gene

82
Q

Follicular Lymphoma

A

t(14;18) 90%

83
Q

Marfan Syndrome

A

Fibrillin-1

84
Q

Sebaceous carcinoma

A

Most common: TP53, RB1, PIK3CA

85
Q

Uveal melanoma

A

GNAQ

86
Q

Embryonal Rhabdomyosarcoma

A

Loss of heterozygosity chromosome 11p15.5

87
Q

Alveolar Rhabdomyosarcoma

A

PAX3-FKHR (FOX01) and PAX7-FKHR (FOX01)

88
Q

Phosphaturic Mesenchymal Tumor

A

FN1-FGFR1 fusion gene (expression of FGF23 in the tumor)

89
Q

Otodental Syndrome

A

FGF3 (Chromo 11)

90
Q

Hemangioma of Infancy

A

GLUT1

91
Q

Brooke-Spiegler

A

CYLD on chromo 16

92
Q

Basal cell adenoma

A

CTNNB1 (neville says this is CTTNB1- but the internet says CTNNB1) mutation in approx 60%; basal cell adenocarcinoma appears negative for the mut

93
Q

Mantle cell lymphoma

A

t11:14; cyclin D1 overexpression (can also occur in multiple myeloma-stains and morphology to differentiate)

94
Q

Mucocutaneous candidiasis

A

Autoantibody to T cells making IL-17

and lack of IL-22

95
Q

Goltz syndrome

A

PORCN

96
Q

Ehlers-Danlos syndrome

A

varies based on type but collagen mutations: type 5 is for classical type E-D

97
Q

Beckwith-weidmann (just affected chromosome)

A

11

98
Q

Rheumatoid arthritis HLA

A

HLA DRB1

99
Q

Giant cell arteritis HLA

A

HLA DR4

100
Q

Mastocytosis

A

c-Kit

101
Q

DSPP gene chromosome?

A

Chromosome 4

102
Q

Cystic fibrosis

A

CFTR gene on chromosome 7

Disrupts function of chloride channels

103
Q

Caffey disease

A

Autosomal dominant, mutation in COL1A1

104
Q

Liposarcoma

A

Amplification of MDM2, CDK4 on chromosome 12 in well-differentiated
Myxoid has t(12;16) TLD-DDIT3 (CHOP)

105
Q

Glomangiopericytoma

A

CTTNB1 specifically GSK3beta region with resultatnt cyclin D1 upregulation

106
Q

Solitary fibrous tumor

A

NAB2-STAT6

107
Q

Glomus tumor

A

MIR143-NOTCH

108
Q

Pericytoma

A

ACTB-GLI1

109
Q

Epithelioid hemangioendothelioma

A

WWTR1-CAMTA1

110
Q

Angioleiomyoma

A

loss of 22q11.2

low level amp Xq

111
Q

NK T cell lymphoma

A

JAK/STAT pathway activation

alterations: JAK, STAT, PTPRK
muts: TP53, DDX3X

112
Q

adamantiomatous type craniopharyngioma

A

CTNNB1 mutations

113
Q

nasopharyngeal angiofibroma

A

loss of Y and gain of X

CTNNB1

114
Q

mortality associated with nasopharyngeal angiofibroma is a result of

A

direct cranial extension or hemorrhage

115
Q

myofibroma/myopericytoma (spectrum)

A

PDGFRB mut

116
Q

osteosarcoma

A

p53 Rb

p53 in li frau meni- disease with propensity to develop osteosarc

117
Q

DFSP

A

COL1A1-PDGFB

118
Q

biphenotypical sinonasal sarcoma

A

t(2;4)

PAX3-MAML3

119
Q

mesenchymal chondrosarcoma

A

HEY1-NCOA2 fusions

NO IDH1 mut

120
Q

Round blue cells of mesenchymal chondrosarcoma stain with

A

SOX9

121
Q

Osteochondroma

A 
EXT1 (sporadic)
EXT1 EXT2 (hereditary multiple osteochondromas)
122
Q

Endolymphatic sac tumor

A

VHL

123
Q

Less common fusion partner for ewing sarcoma

A

EWSR1-ERG

124
Q

thymoma

A

GTF2I

125
Q

MNTI

A

RPLP1-C19MC

126
Q

polymorphous adenocarcinoma

A

PRKD mutations

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