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Neville and Damm > GENETIC MUTATIONS > Flashcards

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

Osteopetrosis

A

RANK / RANKL

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4
Q

Cleidocranial Dysplasia

A

RUNX2 (CBFA1)

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5
Q

Paget Disease

A

SQSTM1

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6
Q

Cherubism

A

SH3BP2

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7
Q

Aneurysmal Bone Cyst

A

USP6

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8
Q

Gnatho-diaphyseal dysplasia

A

GDD1 (TMEM16E)

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9
Q

Ossifying fibroma (hyperparathyroidism-jaw tumor syndrome)

A

HRPT2

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10
Q

Juvenile ossifying fibroma

A

(X;2) translocation

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11
Q

Gardner syndrome (FAP)..chromosome?

A

adenomatous polyposis coli (APC)…ch 5

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12
Q

Chondroma

A

IDH1

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13
Q

Soft tissue fibromatosis (Desmoid tumor)

A

CTTNB1

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14
Q

Osteosarcoma

A

p53,RB1

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15
Q

Osteoblastoma

A

Mutations of 22p

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16
Q

Chondromyxoid fibroma

A

Mutations of chromo 6

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17
Q

Neurofibromatosis Type 2..chromosome? protein?

A

NF2, Chromosome 22, merlin protein

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18
Q

Schwannomatosis

A

SMARCB1 Chromosome 22

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19
Q

Multiple Endocrine Neoplasia type 1 (MEN 1)

A

MEN1

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20
Q

Medullary Thyroid Carcinoma (MTC)

A

RET proto-oncogene

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21
Q

Multiple Endocrine Neoplasia type 2A (MEN 2A)

A

RET proto-oncogene codon 634

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22
Q

Multiple Endocrine Neoplasia type 2B (MEN 2B)

A

RET proto-oncogene codon 918

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23
Q

Port wine stain

A

GNAQ

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24
Q

Uveal melanoma

A

GNAQ

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25
Q

Sturge-Weber Syndrome

A

GNAQ (nonhereditary / somatic) Chromosome 9q21

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26
Q

Alveolar Soft-Part Sarcoma

A

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

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27
Q

Synovial Sarcoma

A

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

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28
Q

Embryonal Rhabdomyosarcoma

A

Loss of heterozygosity at chromo 11p15.5

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29
Q

Alveolar Rhabdomyosarcoma

A

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

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30
Q

Phosphaturic Mesenchymal Tumor

A

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

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31
Q

Pleomorphic Adenoma

A

PLAG1 (pleomorphic adenoma gene 1) chromosome 8q12

HMGA2

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32
Q

Secretory Carcinoma (formerly MASC)

A

ETV6-NTRK3 t(12,15)

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33
Q

Multifocal epithelial hyperplasia (Heck Disease) HLA and HPV types

A

HLA-DR4 allele….HPV 13,32

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34
Q

Verruciform xanthoma (cutaneous)

A

3-beta-hydroxysteriod dehydrogenase (somatic mutation)

35
Q

Seborrheic Keratosis

A

FGFR3 and PIK3CA

36
Q

Ephelis (freckle)

A

MC1R

37
Q

Actinic Lentigo

A

FGFR3 and PIK3CA

38
Q

Acquired melanocytic nevus (mole)

A

BRAF

39
Q

Spitz nevus

A

HRAS

40
Q

Melanoma (7)

A

CDKN2A, CDK4, MC1R, BRAF, KIT (mucosal melanoma especially), MAPK, PI3K/AKT

41
Q

Blue Nevus

A

GNAQ (rarely BRAF)

42
Q

Chromosomes associated with risk of malignant transformation of leukoplakia

A

Loss of heterozygosity 3p and 9p

43
Q

Actinic keratosis

A

TP53

44
Q

HPV associated squamous cell carcinoma (4)

A

E6 (degrades p53) and E7 (inactivates pRb), increased p16, WTp53

45
Q

Oral SCC (7)

A

RAS, MYC, EGFR, TP53, pRb, p16, E-cadherin

46
Q

Nuclear protein in testis midline carcinoma

A

NUT chromosome 15q14

47
Q

Basal Cell Carcinoma (3)

A

PTCH (“patched”), SMO (“smoothened”), TP53

48
Q

Congenital melanocytic nevus

A

NRAS

49
Q

BCC

A 
Genetic susceptibility for certain allelic variants of MC1R gene
PTCH gene (both NBCCS and sporadic)
SMO (smoothened)
50
Q

LADD (Lacrimo-auriculo-dento-digital)

A

FGF10

51
Q

Paraganglioma syndrome 4

A

SDHB mutations

52
Q

Cyclic neutropenia

A

ELA-2 (ELAINE) gene mutation

53
Q

Thrombotic thrombocytopenic purpura (TTP)

A

ADAMTS13 gene mutation

54
Q

Polycythemia vera

A

JAK2

55
Q

Chronic myeloid leukemia (CML)

A

Philadelphia chromosome = translocation ch22 and ch9 → BCR-ABL gene fusion

56
Q

Langerhans cell histiocytosis

A

BRAF (40-60% of lesions)

57
Q

Burkett Lymphoma

A

8:14 translocation (cmyc overexpression)

58
Q

Incontinentia pigmenti

A

Xq28, NEMO gene

59
Q

Darier Disease (and the thing it encodes)

A

ATP2A2 gene, encodes SERCA2 pump

60
Q

Puetz-Jeghars Syndrome

A

STK11 (LKB1)

61
Q

Hereditary Hemorrhagic Telangectasia 1

A

ENG Chormo 9

62
Q

Hereditary Hemorrhagic Telangectasia 2

A

ALK1 (ACVRL1 chromo 12)

63
Q

Hereditary Hemorrhagic Telangectasia + Juvenile polyposis

A

MADH4

64
Q

Ehlers-Danlos Type 8

A

Chromosome 12p13

65
Q

Tuberous Sclerosis

A

TSC1 (Chromo 9) or TSC2 (Chromo 16 *more common)

66
Q

Multiple hamartoma syndrome (Cowden)

A

PTEN (Chromo 10)

67
Q

Epidermolysis Bullosa simplex

A

Mutations in genes for keratin 5 and 14

68
Q

Epidermolysis Bullosa junctional

A

Mutations in genes for laminin-332, type XVII collagen, and alpha 6 - Beta 4 integrin

69
Q

Epidermolysis Bullosa dystrophic

A

Mutations in genes for type VII collagen

70
Q

Kindler syndrome

A

FERMT1 which codes for kindlin-1 (hemidesmosomal attachment protein

71
Q

Van Der Woude

A

IRF6

72
Q

Crouzon or Apert Syndrome

A

FGFR2

73
Q

Pachyonichia Congenita:

Oral leukoplakia:

Neonatal teeth:

A

oral leukoplakia: keratin 6A

neonatal teeth: keratin 17

74
Q

Lipoid proteinosis

A

ECM1

75
Q

Dermatosis Papulosa Nigra

A

FGFR3, PIK3CA (same as Seb Ker & Actinic lentigo)

76
Q

Treacher Collins (Mandibulofacial Dysostosis)

A

TCFO1

77
Q

Mucoepidermoid Carcinoma

A

MAML2-CRTC1 t(11,19)

78
Q

Adenoid cystic carcinoma

A

MYB-NFIB

79
Q

Nevoid basal cell carcinioma syndrome (Gorlin Syndrome)

A

PTCH1

80
Q

Solitary fibrous tumor (what is the old name for this?)

A

STAT6 (old name: hemangiopericytoma)

81
Q

Pierre-Robin Sequence

A

SOX9

82
Q

DeGeorges

A

CATCH22

83
Q

Papillon-Lefevre & Hiam-Munk

A

CTSC (capthespsin C)

Neville and Damm (72 decks)

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