GENETIC MUTATIONS Flashcards
1
Q
Fibrous Dysplasia
A
GNAS
2
Q
Osteogenesis Imperfecta
A
COL1A1 / COL1A2
3
Q
Osteopetrosis
A
RANK / RANKL
4
Q
Cleidocranial Dysplasia
A
RUNX2 (CBFA1)
5
Q
Paget Disease
A
SQSTM1
6
Q
Cherubism
A
SH3BP2
7
Q
Aneurysmal Bone Cyst
A
USP6
8
Q
Gnatho-diaphyseal dysplasia
A
GDD1 (TMEM16E)
9
Q
Ossifying fibroma (hyperparathyroidism-jaw tumor syndrome)
A
HRPT2
10
Q
Juvenile ossifying fibroma
A
(X;2) translocation
11
Q
Gardner syndrome (FAP)..chromosome?
A
adenomatous polyposis coli (APC)…ch 5
12
Q
Chondroma
A
IDH1
13
Q
Soft tissue fibromatosis (Desmoid tumor)
A
CTTNB1
14
Q
Osteosarcoma
A
p53,RB1
15
Q
Osteoblastoma
A
Mutations of 22p
16
Q
Chondromyxoid fibroma
A
Mutations of chromo 6
17
Q
Neurofibromatosis Type 2..chromosome? protein?
A
NF2, Chromosome 22, merlin protein
18
Q
Schwannomatosis
A
SMARCB1 Chromosome 22
19
Q
Multiple Endocrine Neoplasia type 1 (MEN 1)
A
MEN1
20
Q
Medullary Thyroid Carcinoma (MTC)
A
RET proto-oncogene
21
Q
Multiple Endocrine Neoplasia type 2A (MEN 2A)
A
RET proto-oncogene codon 634
22
Q
Multiple Endocrine Neoplasia type 2B (MEN 2B)
A
RET proto-oncogene codon 918
23
Q
Port wine stain
A
GNAQ
24
Q
Uveal melanoma
A
GNAQ
25
Sturge-Weber Syndrome
GNAQ (nonhereditary / somatic) Chromosome 9q21
26
Alveolar Soft-Part Sarcoma
t(X,17) resulting in ASPL-TFE3 fusion gene
27
Synovial Sarcoma
t(X,18) resulting in SS18-SSX fusion gene
28
Embryonal Rhabdomyosarcoma
Loss of heterozygosity at chromo 11p15.5
29
Alveolar Rhabdomyosarcoma
PAX3-FKHR and PAX7-FKHR (FOX01)(chromosome ?)
30
Phosphaturic Mesenchymal Tumor
FN1-FGFR1 fusion gene (expression of FGF23 in the tumor)
31
Pleomorphic Adenoma
PLAG1 (pleomorphic adenoma gene 1) chromosome 8q12
| HMGA2
32
Secretory Carcinoma (formerly MASC)
ETV6-NTRK3 t(12,15)
33
Multifocal epithelial hyperplasia (Heck Disease) HLA and HPV types
HLA-DR4 allele....HPV 13,32
34
Verruciform xanthoma (cutaneous)
3-beta-hydroxysteriod dehydrogenase (somatic mutation)
35
Seborrheic Keratosis
FGFR3 and PIK3CA
36
Ephelis (freckle)
MC1R
37
Actinic Lentigo
FGFR3 and PIK3CA
38
Acquired melanocytic nevus (mole)
BRAF
39
Spitz nevus
HRAS
40
Melanoma (7)
CDKN2A, CDK4, MC1R, BRAF, KIT (mucosal melanoma especially), MAPK, PI3K/AKT
41
Blue Nevus
GNAQ (rarely BRAF)
42
Chromosomes associated with risk of malignant transformation of leukoplakia
Loss of heterozygosity 3p and 9p
43
Actinic keratosis
TP53
44
HPV associated squamous cell carcinoma (4)
E6 (degrades p53) and E7 (inactivates pRb), increased p16, WTp53
45
Oral SCC (7)
RAS, MYC, EGFR, TP53, pRb, p16, E-cadherin
46
Nuclear protein in testis midline carcinoma
NUT chromosome 15q14
47
Basal Cell Carcinoma (3)
PTCH (“patched”), SMO (“smoothened”), TP53
48
Congenital melanocytic nevus
NRAS
49
BCC
```
Genetic susceptibility for certain allelic variants of MC1R gene
PTCH gene (both NBCCS and sporadic)
SMO (smoothened)
```
50
LADD (Lacrimo-auriculo-dento-digital)
FGF10
51
Paraganglioma syndrome 4
SDHB mutations
52
Cyclic neutropenia
ELA-2 (ELAINE) gene mutation
53
Thrombotic thrombocytopenic purpura (TTP)
ADAMTS13 gene mutation
54
Polycythemia vera
JAK2
55
Chronic myeloid leukemia (CML)
Philadelphia chromosome = translocation ch22 and ch9 → BCR-ABL gene fusion
56
Langerhans cell histiocytosis
BRAF (40-60% of lesions)
57
Burkett Lymphoma
8:14 translocation (cmyc overexpression)
58
Incontinentia pigmenti
Xq28, NEMO gene
59
Darier Disease (and the thing it encodes)
ATP2A2 gene, encodes SERCA2 pump
60
Puetz-Jeghars Syndrome
STK11 (LKB1)
61
Hereditary Hemorrhagic Telangectasia 1
ENG Chormo 9
62
Hereditary Hemorrhagic Telangectasia 2
ALK1 (ACVRL1 chromo 12)
63
Hereditary Hemorrhagic Telangectasia + Juvenile polyposis
MADH4
64
Ehlers-Danlos Type 8
Chromosome 12p13
65
Tuberous Sclerosis
TSC1 (Chromo 9) or TSC2 (Chromo 16 *more common)
66
Multiple hamartoma syndrome (Cowden)
PTEN (Chromo 10)
67
Epidermolysis Bullosa simplex
Mutations in genes for keratin 5 and 14
68
Epidermolysis Bullosa junctional
Mutations in genes for laminin-332, type XVII collagen, and alpha 6 - Beta 4 integrin
69
Epidermolysis Bullosa dystrophic
Mutations in genes for type VII collagen
70
Kindler syndrome
FERMT1 which codes for kindlin-1 (hemidesmosomal attachment protein
71
Van Der Woude
IRF6
72
Crouzon or Apert Syndrome
FGFR2
73
Pachyonichia Congenita:
Oral leukoplakia:
Neonatal teeth:
oral leukoplakia: keratin 6A
neonatal teeth: keratin 17
74
Lipoid proteinosis
ECM1
75
Dermatosis Papulosa Nigra
FGFR3, PIK3CA (same as Seb Ker & Actinic lentigo)
76
Treacher Collins (Mandibulofacial Dysostosis)
TCFO1
77
Mucoepidermoid Carcinoma
MAML2-CRTC1 t(11,19)
78
Adenoid cystic carcinoma
MYB-NFIB
79
Nevoid basal cell carcinioma syndrome (Gorlin Syndrome)
PTCH1
80
Solitary fibrous tumor (what is the old name for this?)
STAT6 (old name: hemangiopericytoma)
81
Pierre-Robin Sequence
SOX9
82
DeGeorges
CATCH22
83
Papillon-Lefevre & Hiam-Munk
CTSC (capthespsin C)
