Path Flashcards Preview

Step 1 > Path > Flashcards

Flashcards in Path Deck (137)
1

Abl

CML t(9;22) - also some ALL

Product = tyrosine kinase

2

C-myc

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

Gene product = transcription factor

3

Bcl-2

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

Gene product = anti-apoptotic molecule

4

Erb-B2/ [HER2/neu]

EDFR

*Breast*, ovarian, gastric carcinomas

Amplification
Gene product = tyrosine kinase
Traztuzimab

5

Ras

Colon carcinoma

Gene product = GTPase

6

L-myc

LUNG tumor

Gene product = transcription factor

7

N-myc

NEUROblastoma

Gene product = transcription factor

8

Ret (Neural GFR)

MEN types IIA and IIB
- medullary carcinoma of thyroid
- Pheo (A)
- Neuroma (B)

Point mutation
Gene product = tyrosine kinase

9

C-kit (stem cell GFR)

GI stromal tumor (GIST)

Point mutation
Gene product = cytokine receptor

10

Rb

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

11

p53

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

12

BRCA1

Breast and ovarian cancer

Gene product = DNA repair protein

13

BRCA2

Breast cancer

Gene product = DNA repair protein

14

p16

Melanoma

15

APC

Colorectal cancer (assoc w/ FAP)

16

WT1

Wilms tumor

17

NF1 & 2

Neurofibromatosis type 1 or 2

18

DPC

Pancreatic cancer

DPC - Deleted in Pancreatic Cancer

19

DDC

Colon cancer

DDC - Deleted in Colon Cancer

20

AFP as a tumor marker

Nonseminomatous germ cell of testis

21

B-HCG as a tumor marker

HCG
Hydatidiform moles
Chorioarcinomas
Gestational trophoblastic tumors

22

CA-125

Ovarian cancer
Malignant epithelial tumors

23

S-100

Melanoma
Neural tumors

24

Bombesin

Neuroblastoma
Lung cancer
Gastric cancer

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