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1
Q

Abl

A

CML t(9;22) - also some ALL

Product = tyrosine kinase

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2
Q

C-myc

A

Burkitts lymphoma t(8;14) on Ig Heavy chain
- “starry sky”

Gene product = transcription factor

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3
Q

Bcl-2

A 
Follicular t(14;18) & undifferentiated lymphomas
- overexpressed Bcl2 stabilizes mito membrane = inhibits apoptosis

Gene product = anti-apoptotic molecule

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4
Q

Erb-B2/ [HER2/neu]

EDFR

A

Breast, ovarian, gastric carcinomas

Amplification
Gene product = tyrosine kinase
Traztuzimab

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5
Q

Ras

A

Colon carcinoma

Gene product = GTPase

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6
Q

L-myc

A

LUNG tumor

Gene product = transcription factor

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7
Q

N-myc

A

NEUROblastoma

Gene product = transcription factor

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8
Q

Ret (Neural GFR)

A

MEN types IIA and IIB

  • medullary carcinoma of thyroid
  • Pheo (A)
  • Neuroma (B)

Point mutation
Gene product = tyrosine kinase

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9
Q

C-kit (stem cell GFR)

A

GI stromal tumor (GIST)

Point mutation
Gene product = cytokine receptor

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10
Q

Rb

A

U/L Retinoblastoma - sporadic
Osteosarcoma or B/L Rb - germline/familial

Gene product = rb blocks G1 –> S

  • “holds” E2F TF for transition and released when Rb phos
  • mutation –> free E2F = uncontrolled progression
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11
Q

p53

A

Most cancers
Li-fraumeni syndrome - 1 germ, 1 somatic loss of p53

Gene product = p53 blocks G1 –> S

  • normally slows cycle with DNA damage
  • normally inc BAX –> disrupts Bcl2 –> apoptosis
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12
Q

BRCA1

A

Breast and ovarian cancer

Gene product = DNA repair protein

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13
Q

BRCA2

A

Breast cancer

Gene product = DNA repair protein

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14
Q

p16

A

Melanoma

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15
Q

APC

A

Colorectal cancer (assoc w/ FAP)

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16
Q

WT1

A

Wilms tumor

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17
Q

NF1 & 2

A

Neurofibromatosis type 1 or 2

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18
Q

DPC

A

Pancreatic cancer

DPC - Deleted in Pancreatic Cancer

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19
Q

DDC

A

Colon cancer

DDC - Deleted in Colon Cancer

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20
Q

AFP as a tumor marker

A

Nonseminomatous germ cell of testis

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21
Q

B-HCG as a tumor marker

A

HCG
Hydatidiform moles
Chorioarcinomas
Gestational trophoblastic tumors

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22
Q

CA-125

A

Ovarian cancer

Malignant epithelial tumors

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23
Q

S-100

A

Melanoma

Neural tumors

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24
Q

Bombesin

A

Neuroblastoma
Lung cancer
Gastric cancer

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25
TRAP
Hairy cell leukemia - b-cell neoplasm
26
CA-19-9
Pancreatic adenocarcinoma
27
Calcitonin tumor marker
Thyroid medullaris carcinoma
28
HTLV-1 cancer
Adult T-cell leukemia/lymphoma
29
Hepatitis assoc w/ HCC
HBV & HCV cancer
30
Chinese male or African male presents with Neck mass
Nasopharyngeal - EBV
31
HPV cancers
Adenocarcinoma of cervix (16, 18, 31, 33) Squamous cell of vulva, vagina, anus, penis
32
HHV-8 cancer
Kaposi - AIDS = inc HAART - Mediterranean male = excise - Transplant = reduce immunosuppression Body cavity B-cell
33
HIV cancer
Primary CNS lymphoma
34
Aflatoxin (aspergillus in grain storage) cancer
Hepatocellular
35
Vinyl chloride (making PVC pipes) cancer
Liver - angiosarcoma
36
CCl4 cancer
Liver - centrilobular necrosis
37
Nitrosamines cancer
Intestinal type of Gastric cancer
38
Smoking cancers
Larynx - squamous Lung - squamous & small cell Kidney - renal cell Bladder - transitional
39
Asbestos cancer
Mesothelioma - FAR more likely to develop lung cancer than mesothelioma Bronchogenic carcinoma
40
Arsenic cancer
Lightening of the SKIN - squamous Lung - smoking Liver - angiosarcoma
41
Naphthalene (aniline dye/smoking) cancer
Transitional cell carcinoma
42
Alkylating agent (chemotherapy) cancer
Leukemia/lymphoma
43
Psammoma body cancers
``` PSMM Papillary (thyroid) Serous (ovary) Meningioma Mesothelioma ```
44
Osteogenesis imperfecta
Type I collagen | Choroidal veins = blue sclera
45
Osteopetrosis
Poor clastic fxn Carbonic Anhydrase II mutation --> renal tubular & metabolic acidosis Pancytopenia Vision, hearing loss
46
Inward bending ribs, enlarged forehead, hard nodules on sternum, Inc PTH, Inc Alk Phos
Rickets/Osteomalacia | Low Vit D --> low Ca & Phos --> poor mineralization
47
Loss of height, inc kyphosis, bone fractures in elderly person. Normal bone labs
Osteoporosis - peak bone mass - weight bearing exercise - Vit D, & Ca - Estrogen
48
Bone pain, inc hat size, hearing loss, Inc alk phos, 65 y/o.
Paget Disease Clasts --> mixed --> blasts Thick, sclerotic bone ISOLATED ALK PHOS INC
49
Mosaic pattern of bone
Paget Disease
50
Complications of Paget Disease
High output cardiac failure Osteosarcoma
51
Most common cause os osteomyelitis
SA
52
Tumor on surface of facial bones
Osteoma
53
Associated diseases of osteoma
Familial adenomatous polyposis, vWF
54
20 y/o with bone pain in his leg that resolves w/ aspirin, radiolucent core
Osteoid Osteoma (O O (aspirin) is magic)
55
25 y/o with bone pain in his back that does not resolve with aspirin
Osteoblastoma
56
Most common benign tumor of bone
Osteochondroma
57
15 y/o with bone pain and swelling near his knee
Osteosarcoma Lifts periosteum Codman's Triangle
58
Associated diseases with Osteosarcoma
Kids - retinoblastoma Elderly - Paget disease
59
26 y/o w/ tumor knee knee in epiphyisis of femur. Soap bubble appearance on x-ray.
Giant cell Tumor - ONLY EPIHPYSEAL TUMOR - Giant cells
60
12 y/o male with hemoptysis, seizure, and bone pain. Onion skin appearance on X-ray.
Ewing Sarcoma - Neuroectoderm - Blue cells - 11;22 translocation
61
Chondroma site
small bones of hands and feet
62
Chondrosarcoma site
Pelvis/ central
63
Joint stiffness in morning, gets worse throughout the day. Nodules on PIP and DIP.
arthritits
64
Joint stiffness in morning gets better with activity. Baker cyst behind knee. Nodules on PIP joins, swan neck deformity.
RA - HLA-DR4 - PANNUS formation - Ulnar deviation - DIP SPARED - IgM Ab to Fc portion of IgG = RA nodules
65
Young male difficulty peeing and had felt stiff on his job this morning and noticed some double vision when he finished.
Reiter Syndrome | - HLA-B27
66
Enlargement of fingers and toes with an erythematous rash with a silvery scale.
Psoriatic arthritis | - "sausage" finger and toes
67
Young male presents w/ right knee pain. Slight fever, knee warm to touch, limited in ROM.
Infectious arthritis | - Gonorrheae
68
Self-mutilation, MR, gout
Lesch-Nyhan | - HGPRT
69
Gout crystals
Monosodium urate Needle (-) birefringence Yellow - parallel
70
Pseudogout crystals
Calcium pyrophos dihydrate Rhomboid Weakly (+)
71
Rash on upper eyelids, cant put shirt on or comb hair.
Dermatomyostitis - Proximal muscle weakness + rash - Anti-Jo-1 Ab
72
Disease assoc w/ dermatomyostitis
Gastric caancer
73
Can't put shirt on, can't comb hair, raise arms above head.
Polymyostitis | Endomysial inflammation of CD8+
74
Salmon colored silvery scale plaques on knees, elbows, knuckles
Psoriasis - HLA-C - Acanthosis - Parakeratosis - Neutrophils in corneum = Munro microabscesses
75
Auspitz sign
Bleeding when picking off psoriatic scale
76
Pruritic, planar, polygonal, purple, papules with white reticular lines
Lichen planus - 5 Ps - DE junction w/ SAW-TOOTH appearance - HCV
77
Lesar-Trelat sign
Sudden onset of multiple seborrheic keratoes = underlying GI cancer Keratin Pseudocysts Waxy "stuck-on" appearance
78
Acanthosis nigricans asooc
Insulin resistance | Gastric cancer
79
Vitiligo
Destruction of Melanocytes
80
Freckle
Destruction of MelanoSOMES
81
PDGF cancer
Astrocytoma Overexpression
82
CCND1 (cyclin D1) cancer
Mantle cell lymphoma (region next to the follicle) t(11;14) Ig heavy chain Allows G1 --> S phase
83
CDK4 cancer
Melanoma Amplification
84
Nickel, Chromium, beryllium or silica cancer
Lung cancer
85
Alcohol cancers
Oropharynx, upper esophagus - Squamous cell Pancreatitis --> cancer Hepatocellular
86
Ionizing radiation cancer
AML, CML, papillary thyroid Generates hydroxyl free radicals damages DNA
87
Non-ionizing radiation (UVB)
Basal cell & squamous cell of skin Melanoma Xeroderma pigmentosum - nucletotide excision repair defect
88
Key risk factor for urothelial carcinoma
SMOKING
89
EBV Cancers
Burkitts Hodgkins Nasopharyngeal
90
Cancer cell immune evasion
Down regulate MHC I
91
Osteogenesis imperfecta
Type I collagen | Choroidal veins = blue sclera
92
Osteopetrosis
Poor clastic fxn Carbonic Anhydrase II mutation --> renal tubular & metabolic acidosis Pancytopenia Vision, hearing loss
93
Inward bending ribs, enlarged forehead, hard nodules on sternum, Inc PTH, Inc Alk Phos
Rickets/Osteomalacia | Low Vit D --> low Ca & Phos --> poor mineralization
94
Loss of height, inc kyphosis, bone fractures in elderly person. Normal bone labs
Osteoporosis - peak bone mass - weight bearing exercise - Vit D, & Ca - Estrogen
95
Bone pain, inc hat size, hearing loss, Inc alk phos, 65 y/o.
Paget Disease Clasts --> mixed --> blasts Thick, sclerotic bone ISOLATED ALK PHOS INC
96
Mosaic pattern of bone
Paget Disease
97
Complications of Paget Disease
High output cardiac failure Osteosarcoma
98
Most common cause of osteomyelitis
SA
99
Tumor on surface of facial bones
Osteoma
100
Associated diseases of osteoma
Familial adenomatous polyposis, vWF
101
20 y/o with bone pain in his leg that resolves w/ aspirin, radiolucent core
Osteoid Osteoma (O O (aspirin) is magic)
102
25 y/o with bone pain in his back that does not resolve with aspirin
Osteoblastoma
103
Most common benign tumor of bone
Osteochondroma
104
15 y/o with bone pain and swelling near his knee
Osteosarcoma Lifts periosteum Codman's Triangle
105
Associated diseases with Osteosarcoma
Kids - retinoblastoma Elderly - Paget disease
106
26 y/o w/ tumor knee knee in epiphyisis of femur. Soap bubble appearance on x-ray.
Giant cell Tumor - ONLY EPIHPYSEAL TUMOR - Giant cells
107
12 y/o male with hemoptysis, seizure, and bone pain. Onion skin appearance on X-ray.
Ewing Sarcoma - Neuroectoderm - Blue cells - 11;22 translocation
108
Chondroma site
small bones of hands and feet
109
Chondrosarcoma site
Pelvis/ central
110
Joint stiffness in morning, gets worse throughout the day. Nodules on PIP and DIP.
arthritits
111
Joint stiffness in morning gets better with activity. Baker cyst behind knee. Nodules on PIP joins, swan neck deformity.
RA - HLA-DR4 - PANNUS formation - Ulnar deviation - DIP SPARED - IgM Ab to Fc portion of IgG = RA nodules
112
Young male difficulty peeing and had felt stiff on his job this morning and noticed some double vision when he finished.
Reiter Syndrome | - HLA-B27
113
Enlargement of fingers and toes with an erythematous rash with a silvery scale.
Psoriatic arthritis | - "sausage" finger and toes
114
Young male presents w/ right knee pain. Slight fever, knee warm to touch, limited in ROM.
Infectious arthritis | - Gonorrheae
115
Self-mutilation, MR, gout
Lesch-Nyhan | - HGPRT
116
Gout crystals
Monosodium urate Needle (-) birefringence Yellow - parallel
117
Pseudogout crystals
Calcium pyrophos dihydrate Rhomboid Weakly (+)
118
Rash on upper eyelids, cant put shirt on or comb hair.
Dermatomyostitis - Proximal muscle weakness + rash - Anti-Jo-1 Ab
119
Disease assoc w/ dermatomyostitis
Gastric caancer
120
Can't put shirt on, can't comb hair, raise arms above head.
Polymyostitis | Endomysial inflammation of CD8+
121
Salmon colored silvery scale plaques on knees, elbows, knuckles
Psoriasis - HLA-C - Acanthosis - Parakeratosis - Neutrophils in corneum = Munro microabscesses
122
Auspitz sign
Bleeding when picking off psoriatic scale
123
Pruritic, planar, polygonal, purple, papules with white reticular lines
Lichen planus - 5 Ps - DE junction w/ SAW-TOOTH appearance - HCV
124
Lesar-Trelat sign
Sudden onset of multiple seborrheic keratoes = underlying GI cancer Keratin Pseudocysts Waxy "stuck-on" appearance
125
Acanthosis nigricans asooc
Insulin resistance | Gastric cancer
126
Vitiligo
Destruction of Melanocytes
127
Freckle
Destruction of MelanoSOMES
128
PDGF cancer
Astrocytoma Overexpression
129
CCND1 (cyclin D1) cancer
Mantle cell lymphoma (region next to the follicle) t(11;14) Ig heavy chain Allows G1 --> S phase
130
CDK4 cancer
Melanoma Amplification
131
Nickel, Chromium, beryllium or silica cancer
Lung cancer
132
Alcohol cancers
Oropharynx, upper esophagus - Squamous cell Pancreatitis --> cancer Hepatocellular
133
Ionizing radiation cancer
AML, CML, papillary thyroid Generates hydroxyl free radicals damages DNA
134
Non-ionizing radiation (UVB)
Basal cell & squamous cell of skin Melanoma Xeroderma pigmentosum - nucletotide excision repair defect
135
Key risk factor for urothelial carcinoma
SMOKING
136
EBV Cancers
Burkitts Hodgkins Nasopharyngeal
137
Cancer cell immune evasion
Down regulate MHC I

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