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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
Q

TRAP

A

Hairy cell leukemia - b-cell neoplasm

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26
Q

CA-19-9

A

Pancreatic adenocarcinoma

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27
Q

Calcitonin tumor marker

A

Thyroid medullaris carcinoma

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28
Q

HTLV-1 cancer

A

Adult T-cell leukemia/lymphoma

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29
Q

Hepatitis assoc w/ HCC

A

HBV & HCV cancer

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30
Q

Chinese male or African male presents with Neck mass

A

Nasopharyngeal - EBV

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31
Q

HPV cancers

A

Adenocarcinoma of cervix (16, 18, 31, 33)

Squamous cell of vulva, vagina, anus, penis

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32
Q

HHV-8 cancer

A

Kaposi

  • AIDS = inc HAART
  • Mediterranean male = excise
  • Transplant = reduce immunosuppression

Body cavity B-cell

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33
Q

HIV cancer

A

Primary CNS lymphoma

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34
Q

Aflatoxin (aspergillus in grain storage) cancer

A

Hepatocellular

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35
Q

Vinyl chloride (making PVC pipes) cancer

A

Liver - angiosarcoma

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36
Q

CCl4 cancer

A

Liver - centrilobular necrosis

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37
Q

Nitrosamines cancer

A

Intestinal type of Gastric cancer

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38
Q

Smoking cancers

A

Larynx - squamous
Lung - squamous & small cell
Kidney - renal cell
Bladder - transitional

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39
Q

Asbestos cancer

A

Mesothelioma - FAR more likely to develop lung cancer than mesothelioma
Bronchogenic carcinoma

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40
Q

Arsenic cancer

A

Lightening of the SKIN - squamous
Lung - smoking
Liver - angiosarcoma

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41
Q

Naphthalene (aniline dye/smoking) cancer

A

Transitional cell carcinoma

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42
Q

Alkylating agent (chemotherapy) cancer

A

Leukemia/lymphoma

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43
Q

Psammoma body cancers

A 
PSMM
Papillary (thyroid)
Serous (ovary)
Meningioma
Mesothelioma
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44
Q

Osteogenesis imperfecta

A

Type I collagen

Choroidal veins = blue sclera

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45
Q

Osteopetrosis

A

Poor clastic fxn
Carbonic Anhydrase II mutation –> renal tubular & metabolic acidosis
Pancytopenia
Vision, hearing loss

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46
Q

Inward bending ribs, enlarged forehead, hard nodules on sternum, Inc PTH, Inc Alk Phos

A

Rickets/Osteomalacia

Low Vit D –> low Ca & Phos –> poor mineralization

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47
Q

Loss of height, inc kyphosis, bone fractures in elderly person. Normal bone labs

A

Osteoporosis

  • peak bone mass
  • weight bearing exercise
  • Vit D, & Ca
  • Estrogen
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48
Q

Bone pain, inc hat size, hearing loss, Inc alk phos, 65 y/o.

A

Paget Disease
Clasts –> mixed –> blasts
Thick, sclerotic bone
ISOLATED ALK PHOS INC

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49
Q

Mosaic pattern of bone

A

Paget Disease

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50
Q

Complications of Paget Disease

A

High output cardiac failure

Osteosarcoma

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51
Q

Most common cause os osteomyelitis

A

SA

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52
Q

Tumor on surface of facial bones

A

Osteoma

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53
Q

Associated diseases of osteoma

A

Familial adenomatous polyposis, vWF

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54
Q

20 y/o with bone pain in his leg that resolves w/ aspirin, radiolucent core

A

Osteoid Osteoma (O O (aspirin) is magic)

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55
Q

25 y/o with bone pain in his back that does not resolve with aspirin

A

Osteoblastoma

56
Q

Most common benign tumor of bone

A

Osteochondroma

57
Q

15 y/o with bone pain and swelling near his knee

A

Osteosarcoma
Lifts periosteum
Codman’s Triangle

58
Q

Associated diseases with Osteosarcoma

A

Kids - retinoblastoma

Elderly - Paget disease

59
Q

26 y/o w/ tumor knee knee in epiphyisis of femur. Soap bubble appearance on x-ray.

A

Giant cell Tumor

  • ONLY EPIHPYSEAL TUMOR
  • Giant cells
60
Q

12 y/o male with hemoptysis, seizure, and bone pain. Onion skin appearance on X-ray.

A

Ewing Sarcoma

  • Neuroectoderm
  • Blue cells
  • 11;22 translocation
61
Q

Chondroma site

A

small bones of hands and feet

62
Q

Chondrosarcoma site

A

Pelvis/ central

63
Q

Joint stiffness in morning, gets worse throughout the day. Nodules on PIP and DIP.

A

arthritits

64
Q

Joint stiffness in morning gets better with activity. Baker cyst behind knee. Nodules on PIP joins, swan neck deformity.

A

RA

  • HLA-DR4
  • PANNUS formation
  • Ulnar deviation
  • DIP SPARED
  • IgM Ab to Fc portion of IgG = RA nodules
65
Q

Young male difficulty peeing and had felt stiff on his job this morning and noticed some double vision when he finished.

A

Reiter Syndrome

- HLA-B27

66
Q

Enlargement of fingers and toes with an erythematous rash with a silvery scale.

A

Psoriatic arthritis

- “sausage” finger and toes

67
Q

Young male presents w/ right knee pain. Slight fever, knee warm to touch, limited in ROM.

A

Infectious arthritis

- Gonorrheae

68
Q

Self-mutilation, MR, gout

A

Lesch-Nyhan

- HGPRT

69
Q

Gout crystals

A

Monosodium urate
Needle
(-) birefringence
Yellow - parallel

70
Q

Pseudogout crystals

A

Calcium pyrophos dihydrate
Rhomboid
Weakly (+)

71
Q

Rash on upper eyelids, cant put shirt on or comb hair.

A

Dermatomyostitis

  • Proximal muscle weakness + rash
  • Anti-Jo-1 Ab
72
Q

Disease assoc w/ dermatomyostitis

A

Gastric caancer

73
Q

Can’t put shirt on, can’t comb hair, raise arms above head.

A

Polymyostitis

Endomysial inflammation of CD8+

74
Q

Salmon colored silvery scale plaques on knees, elbows, knuckles

A

Psoriasis

  • HLA-C
  • Acanthosis
  • Parakeratosis
  • Neutrophils in corneum = Munro microabscesses
75
Q

Auspitz sign

A

Bleeding when picking off psoriatic scale

76
Q

Pruritic, planar, polygonal, purple, papules with white reticular lines

A

Lichen planus

  • 5 Ps
  • DE junction w/ SAW-TOOTH appearance
  • HCV
77
Q

Lesar-Trelat sign

A

Sudden onset of multiple seborrheic keratoes = underlying GI cancer

Keratin Pseudocysts
Waxy “stuck-on” appearance

78
Q

Acanthosis nigricans asooc

A

Insulin resistance

Gastric cancer

79
Q

Vitiligo

A

Destruction of Melanocytes

80
Q

Freckle

A

Destruction of MelanoSOMES

81
Q

PDGF cancer

A

Astrocytoma

Overexpression

82
Q

CCND1 (cyclin D1) cancer

A

Mantle cell lymphoma (region next to the follicle)
t(11;14) Ig heavy chain

Allows G1 –> S phase

83
Q

CDK4 cancer

A

Melanoma

Amplification

84
Q

Nickel, Chromium, beryllium or silica cancer

A

Lung cancer

85
Q

Alcohol cancers

A

Oropharynx, upper esophagus - Squamous cell
Pancreatitis –> cancer
Hepatocellular

86
Q

Ionizing radiation cancer

A

AML, CML, papillary thyroid

Generates hydroxyl free radicals damages DNA

87
Q

Non-ionizing radiation (UVB)

A

Basal cell & squamous cell of skin
Melanoma

Xeroderma pigmentosum - nucletotide excision repair defect

88
Q

Key risk factor for urothelial carcinoma

A

SMOKING

89
Q

EBV Cancers

A

Burkitts
Hodgkins
Nasopharyngeal

90
Q

Cancer cell immune evasion

A

Down regulate MHC I

91
Q

Osteogenesis imperfecta

A

Type I collagen

Choroidal veins = blue sclera

92
Q

Osteopetrosis

A

Poor clastic fxn
Carbonic Anhydrase II mutation –> renal tubular & metabolic acidosis
Pancytopenia
Vision, hearing loss

93
Q

Inward bending ribs, enlarged forehead, hard nodules on sternum, Inc PTH, Inc Alk Phos

A

Rickets/Osteomalacia

Low Vit D –> low Ca & Phos –> poor mineralization

94
Q

Loss of height, inc kyphosis, bone fractures in elderly person. Normal bone labs

A

Osteoporosis

  • peak bone mass
  • weight bearing exercise
  • Vit D, & Ca
  • Estrogen
95
Q

Bone pain, inc hat size, hearing loss, Inc alk phos, 65 y/o.

A

Paget Disease
Clasts –> mixed –> blasts
Thick, sclerotic bone
ISOLATED ALK PHOS INC

96
Q

Mosaic pattern of bone

A

Paget Disease

97
Q

Complications of Paget Disease

A

High output cardiac failure

Osteosarcoma

98
Q

Most common cause of osteomyelitis

A

SA

99
Q

Tumor on surface of facial bones

A

Osteoma

100
Q

Associated diseases of osteoma

A

Familial adenomatous polyposis, vWF

101
Q

20 y/o with bone pain in his leg that resolves w/ aspirin, radiolucent core

A

Osteoid Osteoma (O O (aspirin) is magic)

102
Q

25 y/o with bone pain in his back that does not resolve with aspirin

A

Osteoblastoma

103
Q

Most common benign tumor of bone

A

Osteochondroma

104
Q

15 y/o with bone pain and swelling near his knee

A

Osteosarcoma
Lifts periosteum
Codman’s Triangle

105
Q

Associated diseases with Osteosarcoma

A

Kids - retinoblastoma

Elderly - Paget disease

106
Q

26 y/o w/ tumor knee knee in epiphyisis of femur. Soap bubble appearance on x-ray.

A

Giant cell Tumor

  • ONLY EPIHPYSEAL TUMOR
  • Giant cells
107
Q

12 y/o male with hemoptysis, seizure, and bone pain. Onion skin appearance on X-ray.

A

Ewing Sarcoma

  • Neuroectoderm
  • Blue cells
  • 11;22 translocation
108
Q

Chondroma site

A

small bones of hands and feet

109
Q

Chondrosarcoma site

A

Pelvis/ central

110
Q

Joint stiffness in morning, gets worse throughout the day. Nodules on PIP and DIP.

A

arthritits

111
Q

Joint stiffness in morning gets better with activity. Baker cyst behind knee. Nodules on PIP joins, swan neck deformity.

A

RA

  • HLA-DR4
  • PANNUS formation
  • Ulnar deviation
  • DIP SPARED
  • IgM Ab to Fc portion of IgG = RA nodules
112
Q

Young male difficulty peeing and had felt stiff on his job this morning and noticed some double vision when he finished.

A

Reiter Syndrome

- HLA-B27

113
Q

Enlargement of fingers and toes with an erythematous rash with a silvery scale.

A

Psoriatic arthritis

- “sausage” finger and toes

114
Q

Young male presents w/ right knee pain. Slight fever, knee warm to touch, limited in ROM.

A

Infectious arthritis

- Gonorrheae

115
Q

Self-mutilation, MR, gout

A

Lesch-Nyhan

- HGPRT

116
Q

Gout crystals

A

Monosodium urate
Needle
(-) birefringence
Yellow - parallel

117
Q

Pseudogout crystals

A

Calcium pyrophos dihydrate
Rhomboid
Weakly (+)

118
Q

Rash on upper eyelids, cant put shirt on or comb hair.

A

Dermatomyostitis

  • Proximal muscle weakness + rash
  • Anti-Jo-1 Ab
119
Q

Disease assoc w/ dermatomyostitis

A

Gastric caancer

120
Q

Can’t put shirt on, can’t comb hair, raise arms above head.

A

Polymyostitis

Endomysial inflammation of CD8+

121
Q

Salmon colored silvery scale plaques on knees, elbows, knuckles

A

Psoriasis

  • HLA-C
  • Acanthosis
  • Parakeratosis
  • Neutrophils in corneum = Munro microabscesses
122
Q

Auspitz sign

A

Bleeding when picking off psoriatic scale

123
Q

Pruritic, planar, polygonal, purple, papules with white reticular lines

A

Lichen planus

  • 5 Ps
  • DE junction w/ SAW-TOOTH appearance
  • HCV
124
Q

Lesar-Trelat sign

A

Sudden onset of multiple seborrheic keratoes = underlying GI cancer

Keratin Pseudocysts
Waxy “stuck-on” appearance

125
Q

Acanthosis nigricans asooc

A

Insulin resistance

Gastric cancer

126
Q

Vitiligo

A

Destruction of Melanocytes

127
Q

Freckle

A

Destruction of MelanoSOMES

128
Q

PDGF cancer

A

Astrocytoma

Overexpression

129
Q

CCND1 (cyclin D1) cancer

A

Mantle cell lymphoma (region next to the follicle)
t(11;14) Ig heavy chain

Allows G1 –> S phase

130
Q

CDK4 cancer

A

Melanoma

Amplification

131
Q

Nickel, Chromium, beryllium or silica cancer

A

Lung cancer

132
Q

Alcohol cancers

A

Oropharynx, upper esophagus - Squamous cell
Pancreatitis –> cancer
Hepatocellular

133
Q

Ionizing radiation cancer

A

AML, CML, papillary thyroid

Generates hydroxyl free radicals damages DNA

134
Q

Non-ionizing radiation (UVB)

A

Basal cell & squamous cell of skin
Melanoma

Xeroderma pigmentosum - nucletotide excision repair defect

135
Q

Key risk factor for urothelial carcinoma

A

SMOKING

136
Q

EBV Cancers

A

Burkitts
Hodgkins
Nasopharyngeal

137
Q

Cancer cell immune evasion

A

Down regulate MHC I

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