Oncogenes, Carcinogens, Tumor Markers/Stains, Paraneoplastic Syndromes Flashcards

1
Q

ALK

A

proto-oncogene; tyrosine kinase receptor

lung adenocarcinoma

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2
Q

EGFR (ERBB1)

A

proto-oncogene; epidermal growth factor (EGFR; ERBB1; HER1 in humans); receptor tyrosine kinase

lung adenocarcinoma

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3
Q

HER2 (ERBB2)

A

proto-oncogene; receptor tyrosine kinase

breast and gastric carcinomas

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4
Q

RET

A

proto-oncogene; receptor tyrosine kinase

MEN2A and 2B, medullary and papillary thyroid carcinoma, pheochromocytoma

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5
Q

BCR-ABL

A

proto-oncogene; non-receptor tyrosine kinase

CML, ALL

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6
Q

JAK2

A

proto-oncogene; non-receptor tyrosine kinase

myeloproliferative neoplasms

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7
Q

BRAF

A

serine/threonine kinase

melanoma, non-Hodgkin lymphoma, colorectal carcinoma, papillary thyroid carcinoma, hairy cell leukemia

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8
Q

c-KIT

A

proto-oncogene; cytokine receptor (CD117)

gastrointestinal stromal tumor (GIST), mastocytosis

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9
Q

MYCC (c-myc)

A

proto-oncogene; transcription factor

Burkitt lymphoma

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10
Q

MYCN (n-myc)

A

proto-oncogene; transcription factor

neuroblastoma

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11
Q

KRAS

A

proto-oncogene; RAS GTPase

colorectal, lung, pancreatic cancers

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12
Q

BCL-2

A

proto-oncogene; antiapoptotic molecule

follicular and diffuse large B cell lymphoma

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13
Q

APC

A

tumor suppressor gene; negative regulator of beta-catenin/WNT pathway

colorectal cancer (FAP)

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14
Q

BRCA1/BRCA2

A

tumor suppressor gene; BRCA1/BRCA2 proteins

breast, ovarian, prostate, pancreatic cancer

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15
Q

CDKN2A

A

tumor suppressor gene; p16, blocks G1 -> S phase

many cancers (melanoma, lung, pancreas)

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16
Q

DCC

A

tumor suppressor gene; DCC gene

colorectal cancer

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17
Q

SMAD4 (DPC4)

A

tumor suppressor gene; DPC gene

pancreatic cancer, colorectal cancer

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18
Q

MEN1

A

tumor suppressor gene; menin

multiple endocrine neoplasia type 1

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19
Q

NF1

A

tumor suppressor gene; neurofibromin (RAS GTPase activating protein)

neurofibromatosis type 1

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20
Q

NF2

A

tumor suppressor gene; merlin (schwannomin) protein

neurofibromatosis type 2

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21
Q

PTEN

A

tumor suppressor gene; negative regulator of PI3k/AKT pathway

prostate, breast, and endometrial cancers

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22
Q

RB1

A

tumor suppressor gene; inhibits EF2 (blocks G1 -> S phase)

retinoblastoma, osteosarcoma

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23
Q

TP53

A

tumor suppressor gene; p53 activates p21, which blocks G1 -> S phase

most cancers, Li-Fraumeni syndrome

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24
Q

TSC1

A

tumor suppressor gene; hamartin protein

tuberous sclerosis

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25
Q

TSC2

A

tumor suppressor gene; tuberin

tuberous sclerosis

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26
Q

VHL

A

tumor suppressor gene; inhibits hypoxia-inducible factor 1a

von Hippel-Lindau disease

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27
Q

WT1

A

tumor suppressor gene; urogenital development transcription factor

Wilms tumor (nephroblastoma)

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28
Q

aflatoxins

A

from Aspergillus; stored grains and nuts

hepatocellular carcinoma

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29
Q

alkylating agents

A

oncologic chemotherapy

leukemia/lymphoma

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30
Q

aromatic amines (benzidine, 2-naphthylamine)

A

textile industry (dyes), tobacco smoke (2-naphthylamine)

transitional cell carcinoma

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31
Q

arsenic

A

herbicides (vineyard workers), metal smelting, wood preservation

hepatic angiosarcoma, lung cancer, squamous cell carcinoma (skin)

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32
Q

asbestos

A

old roofing material, shipyard workers

bronchogenic carcinoma > mesothelioma

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33
Q

tobacco smoke

A

transitional cell carcinoma (bladder), squamous cell carcinoma (cervix, esophagus, larynx, lung, oropharynx), esophagus adenocarcinoma, renal cell carcinoma, small cell lung cancer, pancreatic adenocarcinoma

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34
Q

ethanol

A

esophagus squamous cell carcinoma, hepatocellular carcinoma, breast cancer

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35
Q

ionizing radiation

A

leukemia, papillary thyroid carcinoma

36
Q

nickel, chromium, beryllium, silica

A

occupational exposure

lung cancer

37
Q

nitrosamines

A

smoked foods

gastric cancer (intestinal type)

38
Q

radon

A

byproduct of uranium decay, accumulates in basements

lung cancer (2nd leading cause after tobacco smoke)

39
Q

vinyl chloride

A

used to make PVC pipes

hepatic angiosarcoma

40
Q

serum tumor marker: alkaline phosphate

A

metastases to bone or liver, Paget disease of bone, seminoma

41
Q

serum tumor marker: alpha-fetoprotein

A

hepatocellular carcinoma, endodermal sinus (yolk sac) tumor, mixed germ cell tumor, ataxia-telangiectasia

in pregnancy, high levels associated with neural tube and abdominal wall defects, low levels associated with Down syndrome

42
Q

serum tumor marker: hCG

A

hydatidiform moles and choriocarcinomas (gestational trophoblastic disease), testicular cancer, mixed germ cell tumor

43
Q

serum tumor marker: CA 15-3/ CA 27-29

A

breast cancer

44
Q

serum tumor marker: CA 19-9

A

pancreatic adenocarcinoma

45
Q

serum tumor marker: CA 125

A

epithelial ovarian cancer

46
Q

serum tumor marker: calcitonin

A

medullary thyroid carcinoma (alone and in MEN2A, MEN2B)

47
Q

serum tumor marker: CEA

A

colorectal and pancreatic cancers

48
Q

serum tumor marker: chromogranin

A

neuroendocrine tumors

49
Q

serum tumor marker: LDH

A

testicular germ cell tumors, ovarian dysgerminoma

50
Q

serum tumor marker: neuron-specific enolase

A

neuroendocrine tumors (small cell lung cancer, carcinoid tumor, neuroblastoma)

51
Q

serum tumor marker: PSA

A

prostate cancer

52
Q

IHC stains: chromogranin and synaptophysin

A

target: neuroendocrine cells

small cell carcinoma of the lung, carcinoid tumor, neuroblastoma

53
Q

IHC stains: cytokeratin

A

target: epithelial cells

epithelial tumors (squamous cell carcinoma)

54
Q

IHC stains: desmin

A

target: muscle

muscle tumors (rhabdomyosarcoma)

55
Q

IHC stains: GFAP

A

target: neuroglia (astrocytes, Schwann cells, oligodendrocytes)

astrocytoma, glioblastoma

56
Q

IHC stains: neurofilament

A

target: neurons

neuronal tumors (neuroblastoma)

57
Q

IHC stains: PSA

A

target: prostatic epithelium

prostate cancer

58
Q

IHC stains: S-100

A

target: neural crest cells

melanoma, schwannoma, Langerhans cell histiocytosis

59
Q

IHC stains: TRAP

A

target: tartrate-resistant acid phosphatase

hairy cell leukemia

60
Q

IHC stains: vimentin

A

target: mesenchymal tissue (fibroblasts, endothelial cells, macrophages)

mesenchymal tumors (sarcoma); also many other tumors (endometrial carcinoma, renal cell carcinoma, meningioma)

61
Q

psammoma bodies are found in [?]

A

“PSAMMOMaS”:
Papillary carcinoma of thyroid
Somatostatinoma
Adrenals (calcifying fibrous pseudotumor)
Meningioma
malignant Mesothelioma
Ovarian serous carcinoma
prolactinoma (Milk)
Serous endometrial carcinoma

62
Q

dermatomyositis

A

progressive proximal muscle weakness, Gottron papules, heliotrope rash

adenocarcinomas, especially ovarian

63
Q

acanthosis nigricans

A

hyperpigmented velvety plaques in axilla and neck

gastric adenocarcinoma and other visceral malignancies

64
Q

sign of Leser-Trelat

A

sudden onset of multiple seborrheic keratoses

GI adenocarcinomas and other visceral malignancies

65
Q

hypertrophic osteoarthropathy

A

abnormal proliferation of skin and bone at distal extremities => clubbing, arthralgia, joint effusions, periostosis of tubular bones

adenocarcinoma of the lung

66
Q

hypercalcemia

A

PTHrP: squamous cell carcinomas of lung, head, and neck; renal, bladder, breast, and ovarian carcinomas

increased 1,25-(OH)2 vitamin D3 (calcitriol): lymphoma

67
Q

Cushing syndrome

A

increased ACTH

small cell lung cancer

68
Q

hyponatremia (SIADH)

A

increased ADH

small cell lung cancer

69
Q

polycythemia

A

increased erythropoietin

Pheochromocytoma, Renal cell carcinoma, Hepatocellular carcinoma, Hemangioblastoma, Leiomyoma

“Paraneoplastic Rise to High Hematocrit Levels”

70
Q

pure red cell aplasia

A

anemia with low reticulocytes

thymoma

71
Q

Good syndrome

A

hypogammaglobulinemia

thymoma

72
Q

Trousseau syndrome

A

migratory superficial thrombophlebitis

adenocarcinoma, especially pancreatic

73
Q

nonbacterial thrombotic endocarditis

A

deposition of sterile platelet thrombi on heart valves

adenocarcinoma, especially pancreatic

74
Q

anti-NMDA receptor encephalitis

A

psychiatric disturbance, memory deficits, seizures, dyskinesias, autonomic instability, language dysfunction

ovarian teratoma

75
Q

opsoclonus-myoclonus ataxia syndrome

A

“dancing eyes, dancing feet”

neuroblastoma (children), small cell lung cancer (adults)

76
Q

paraneoplastic cerebellar degeneration

A

antibodies against antigens in Purkinje cells

small cell lung cancer (anti-Hu), gynecologic and breast cancers (anti-Yo), and Hodgkin lymphoma (anti-Tr)

77
Q

paraneoplastic encephalomyelitis

A

antibodies against Hu antigens in neurons

small cell lung cancer

78
Q

Lambert-Eaton myasthenic syndrome

A

antibodies against presynaptic calcium channels at neuromuscular junction

small cell lung cancer

79
Q

myasthenia gravis

A

antibodies against postsynaptic ACh receptors at neuromuscular junction

thymoma

80
Q

t(8;14)

A

Burkitt lymphoma (c-myc activation)

81
Q

t(11;14)

A

mantle cell lymphoma (cyclin D1 activation)

82
Q

t(11;18)

A

marginal zone lymphoma

83
Q

t(14;18)

A

follicular zone lymphoma (BCL-2 activation)

84
Q

t(15;17)

A

APL (formerly AML type M3)

85
Q

t(9;22)

A

Philadelphia chromosome; CML (BCR-ABL hybrid), less commonly ALL