Frequent Genetic Mutations Flashcards
1
Q
Fibrous Dysplasia
A
GNAS
2
Q
Osteogenesis Imperfecta
A
COL1A1, COL1A2
3
Q
Cleidocranial Dysplasia
A
RUNX2 (CBFA1)
4
Q
Paget Disease
A
SQSTM1
5
Q
Cherubism (chromosome?)
A
SH3BP2, chromosome 4
6
Q
Aneurysmal Bone Cyst (chromosome too?)
A
USP6, chromosome 7
and/or CDH11
7
Q
Gnatho-diaphyseal dysplasia
A
GDD1
8
Q
Hyperparathyroidism jaw tumor syndrome
A
HRPT2 (in OF)
9
Q
Gardner Syndrome (chromosome too?)
A
APC, chromosome 5
10
Q
Chondroma
A
IDH1
11
Q
Soft tissue fibromatosis (Desmoid tumor)
A
CTNNB1- encodes beta-catenin
12
Q
Neurofibromatosis Type 2..chromosome? protein?
A
NF2, Chromosome 22, merlin protein
13
Q
Sturge-Weber Syndrome
A
GNAQ
14
Q
Alveolar Soft-Part Sarcoma
A
t(X,17) resulting in ASPL-TFE3 fusion gene
15
Q
Synovial Sarcoma
A
t(X,18) resulting in SS18-SSX fusion gene
16
Q
Pleomorphic Adenoma
A
PLAG1
HMGA2
17
Q
Secretory Carcinoma
A
ETV6-NTRK3 t(12,15)
18
Q
HLA Heck’s DIsease & Purigo & Giant Cell Arteritis
A
HLA-DR4
19
Q
Seborrheic Keratosis
A
FGFR3, PIK3CA
20
Q
Ephelis (freckle)
A
MC1R
21
Q
Acquired melanocytic nevus (mole)
A
BRAF
22
Q
Actinic lentigo
A
FGFR3, PIK3CA
23
Q
Spitz Nevus
A
HRAS
24
Q
Blue Nevus
A
GNAQ
25
Basal cell carcinoma
TP53, SMO, PTCH
26
Congenital melanocytic nevus
NRAS
27
LADD (Lacrimo-auriculo-dento-digital)
FGF10
28
Cyclic neutropenia
ELA-2 (ELANE)
29
TTP Thrombotic thrombocytopenic purpura
deficiency in ADAMTS13 (von willebrand cleaving factor)
| -either from autoantibodies to ADAM or inherited auto recessive mutation to ADAM
30
Polycythemia vera
JAK2
31
Chronic myeloid leukemia (CML)
9;22 BCR-ABL called the Philadelphia chromosome
32
LCH
BRAF
33
Burkitt Lymphoma
8;14 c-myc overexpression
34
Incontinentia pigmenti (inheritance?)
NEMO...X-linked DOMINANT (so females get it, males die)
35
Darier Disease
ATP2A2, encodes SERCA pump
36
Peutz-Jeghers
STK11 aka LKB1
37
HHT1 (chromosome?)
ENG; chromosome 9
38
HHT2 (2 names of the gene, what chromosome?)
ALK1 aka ACVRL1; chromosome 12
39
Hereditary Hemorrhagic Telangiectasia + Juvenile polyposis
MADH4
40
Tuberous Sclerosis (chromosome(s)?, which one is more common?)
TSC1; chromosome 9
| TSC2; chromosome 16 MORE COMMON
41
Multiple hamartoma syndrome (Cowden)
PTEN; Chromosome 10
42
Epidermolysis Bullosa simplex
Keratin 5 and 14
43
Epidermolysis Bullosa junctional
Laminin-332
Type XVII collagen
Alpha 6 - Beta 4 integrin
44
Epidermolysis Bullosa dystrophic
Type VII collagen
45
Kindler syndrome
FERMT1, codes for kindlin-1
46
Van Der Woude
IRF6
47
Crouzan and Apert (chromosome?)
FGFR2; chromosome 10
48
Pachyonichia Congenita
Leukoplakia: keratin 6A
| Neonatal teeth: Keratin 17
49
Lipoid proteinosis
ECM1
50
Mandibulofacial dysostosis (treacher collins)
TCOF1
51
Mucoepidermoid carcinoma
11;19
| MAML2-CRTC1
52
Adenoid cystic carcinoma
6;9
| MYB-NFIB
53
Acinic Cell carcinoma
HTN3-MSANTD3 fusion is a recurrent fusion event in the salivary gland AciCC but is found in <5% of cases
54
Pierre-Robin Sequence
SOX9
55
Digeorge syndrome
aka chromosome 22q11.2 deletion syndrome
56
Papillon-Lefevre and Haim Munk (chromosome?)
Cathepsin C gene mutation, chromosome 11
57
Nevoid basal cell carcinoma syndrome (chromosome?)
PTCH1; chromosome 9
58
Nodular fasciitis
MYH9-USP6
FISH test available for USP6
59
Clear cell odontogenic carcinoma
EWSR1 rearrangements
| Most common: EWSR1-ATF1 >80%
60
Calcifying epithelial odontogenic tumor
PTCH1
61
Osteopetrosis
RANK or RANK-ligand
62
Noonan syndrome
PTPN11
63
Juvenile Ossifying Fibroma (psamommatoid variant)
trabecular variant: not specified
| psamommatoid variant: X;2 translocation
64
Hereditary retinoblastoma
RB1
65
Chondrosarcoma
IDH1/2
66
Ewing sarcoma
EWSR1-FLI1
11;22 translocation (EWSR1=Ch22, FLI1=Ch11)
EWS-FLI1 protein product
67
Von recklinghausen disease of the skin
NF1, chromosome 17; neurofibromin protein
68
Medullary thyroid carcinoma syndrome
RET, chromosome 10
69
MEN2A (aka sipple syndrome)
RET, chromosome 10
70
MEN2B
RET codon 918
71
Paraganglioma
Succinate dehydrogenase
72
Verruciform xanthoma
3BHSD
| 3-beta-hydroxysteroid dehydrogenase (3BHSD)
73
Name 4 of the most common Tumor suppressor genes
TP53, pRb, p16, E-Cadherin
74
Hemophilia type A
Factor 8 mutations
75
White sponge nevus
Keratin 4 and 13
76
Dyskeratosis congenita
DKC1
77
Amelogenesis imperfecta: Whats the worst one?
AMELX, ENAM, MMP-20, KLK4, **FAM83H(worst one), WDR72, C4orf26, DLX3
78
Dentiogenesis imperfecta
DSPP (also in dentin dysplasia type 2)
79
Niemann-Pick Disease
NPC-1 NPC-2
80
Vitamin D Resistant Rickets
PHEX
81
APECED: autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome
AIRE gene
82
Follicular Lymphoma
t(14;18) 90%
83
Marfan Syndrome
Fibrillin-1
84
Sebaceous carcinoma
Most common: TP53, RB1, PIK3CA
85
Uveal melanoma
GNAQ
86
Embryonal Rhabdomyosarcoma
Loss of heterozygosity chromosome 11p15.5
87
Alveolar Rhabdomyosarcoma
PAX3-FKHR (FOX01) and PAX7-FKHR (FOX01)
88
Phosphaturic Mesenchymal Tumor
FN1-FGFR1 fusion gene (expression of FGF23 in the tumor)
89
Otodental Syndrome
FGF3 (Chromo 11)
90
Hemangioma of Infancy
GLUT1
91
Brooke-Spiegler
CYLD on chromo 16
92
Basal cell adenoma
CTNNB1 (neville says this is CTTNB1- but the internet says CTNNB1) mutation in approx 60%; basal cell adenocarcinoma appears negative for the mut
93
Mantle cell lymphoma
t11:14; cyclin D1 overexpression (can also occur in multiple myeloma-stains and morphology to differentiate)
94
Mucocutaneous candidiasis
Autoantibody to T cells making IL-17
| and lack of IL-22
95
Goltz syndrome
PORCN
96
Ehlers-Danlos syndrome
varies based on type but collagen mutations: type 5 is for classical type E-D
97
Beckwith-weidmann (just affected chromosome)
11
98
Rheumatoid arthritis HLA
HLA DRB1
99
Giant cell arteritis HLA
HLA DR4
100
Mastocytosis
c-Kit
101
DSPP gene chromosome?
Chromosome 4
102
Cystic fibrosis
CFTR gene on chromosome 7
| Disrupts function of chloride channels
103
Caffey disease
Autosomal dominant, mutation in COL1A1
104
Liposarcoma
Amplification of MDM2, CDK4 on chromosome 12 in well-differentiated
Myxoid has t(12;16) TLD-DDIT3 (CHOP)
105
Glomangiopericytoma
CTTNB1 specifically GSK3beta region with resultatnt cyclin D1 upregulation
106
Solitary fibrous tumor
NAB2-STAT6
107
Glomus tumor
MIR143-NOTCH
108
Pericytoma
ACTB-GLI1
109
Epithelioid hemangioendothelioma
WWTR1-CAMTA1
110
Angioleiomyoma
loss of 22q11.2
| low level amp Xq
111
NK T cell lymphoma
JAK/STAT pathway activation
alterations: JAK, STAT, PTPRK
muts: TP53, DDX3X
112
adamantiomatous type craniopharyngioma
CTNNB1 mutations
113
nasopharyngeal angiofibroma
loss of Y and gain of X
| CTNNB1
114
mortality associated with nasopharyngeal angiofibroma is a result of
direct cranial extension or hemorrhage
115
myofibroma/myopericytoma (spectrum)
PDGFRB mut
116
osteosarcoma
p53 Rb
| p53 in li frau meni- disease with propensity to develop osteosarc
117
DFSP
COL1A1-PDGFB
118
biphenotypical sinonasal sarcoma
t(2;4)
| PAX3-MAML3
119
mesenchymal chondrosarcoma
HEY1-NCOA2 fusions
| NO IDH1 mut
120
Round blue cells of mesenchymal chondrosarcoma stain with
SOX9
121
Osteochondroma
```
EXT1 (sporadic)
EXT1 EXT2 (hereditary multiple osteochondromas)
```
122
Endolymphatic sac tumor
VHL
123
Less common fusion partner for ewing sarcoma
EWSR1-ERG
124
thymoma
GTF2I
125
MNTI
RPLP1-C19MC
126
polymorphous adenocarcinoma
PRKD mutations
