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
TSC2
tumor suppressor gene; tuberin tuberous sclerosis
26
VHL
tumor suppressor gene; inhibits hypoxia-inducible factor 1a von Hippel-Lindau disease
27
WT1
tumor suppressor gene; urogenital development transcription factor Wilms tumor (nephroblastoma)
28
aflatoxins
from Aspergillus; stored grains and nuts hepatocellular carcinoma
29
alkylating agents
oncologic chemotherapy leukemia/lymphoma
30
aromatic amines (benzidine, 2-naphthylamine)
textile industry (dyes), tobacco smoke (2-naphthylamine) transitional cell carcinoma
31
arsenic
herbicides (vineyard workers), metal smelting, wood preservation hepatic angiosarcoma, lung cancer, squamous cell carcinoma (skin)
32
asbestos
old roofing material, shipyard workers bronchogenic carcinoma > mesothelioma
33
tobacco smoke
transitional cell carcinoma (bladder), squamous cell carcinoma (cervix, esophagus, larynx, lung, oropharynx), esophagus adenocarcinoma, renal cell carcinoma, small cell lung cancer, pancreatic adenocarcinoma
34
ethanol
esophagus squamous cell carcinoma, hepatocellular carcinoma, breast cancer
35
ionizing radiation
leukemia, papillary thyroid carcinoma
36
nickel, chromium, beryllium, silica
occupational exposure lung cancer
37
nitrosamines
smoked foods gastric cancer (intestinal type)
38
radon
byproduct of uranium decay, accumulates in basements lung cancer (2nd leading cause after tobacco smoke)
39
vinyl chloride
used to make PVC pipes hepatic angiosarcoma
40
serum tumor marker: alkaline phosphate
metastases to bone or liver, Paget disease of bone, seminoma
41
serum tumor marker: alpha-fetoprotein
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
serum tumor marker: hCG
hydatidiform moles and choriocarcinomas (gestational trophoblastic disease), testicular cancer, mixed germ cell tumor
43
serum tumor marker: CA 15-3/ CA 27-29
breast cancer
44
serum tumor marker: CA 19-9
pancreatic adenocarcinoma
45
serum tumor marker: CA 125
epithelial ovarian cancer
46
serum tumor marker: calcitonin
medullary thyroid carcinoma (alone and in MEN2A, MEN2B)
47
serum tumor marker: CEA
colorectal and pancreatic cancers
48
serum tumor marker: chromogranin
neuroendocrine tumors
49
serum tumor marker: LDH
testicular germ cell tumors, ovarian dysgerminoma
50
serum tumor marker: neuron-specific enolase
neuroendocrine tumors (small cell lung cancer, carcinoid tumor, neuroblastoma)
51
serum tumor marker: PSA
prostate cancer
52
IHC stains: chromogranin and synaptophysin
target: neuroendocrine cells small cell carcinoma of the lung, carcinoid tumor, neuroblastoma
53
IHC stains: cytokeratin
target: epithelial cells epithelial tumors (squamous cell carcinoma)
54
IHC stains: desmin
target: muscle muscle tumors (rhabdomyosarcoma)
55
IHC stains: GFAP
target: neuroglia (astrocytes, Schwann cells, oligodendrocytes) astrocytoma, glioblastoma
56
IHC stains: neurofilament
target: neurons neuronal tumors (neuroblastoma)
57
IHC stains: PSA
target: prostatic epithelium prostate cancer
58
IHC stains: S-100
target: neural crest cells melanoma, schwannoma, Langerhans cell histiocytosis
59
IHC stains: TRAP
target: tartrate-resistant acid phosphatase hairy cell leukemia
60
IHC stains: vimentin
target: mesenchymal tissue (fibroblasts, endothelial cells, macrophages) mesenchymal tumors (sarcoma); also many other tumors (endometrial carcinoma, renal cell carcinoma, meningioma)
61
psammoma bodies are found in [?]
"PSAMMOMaS": Papillary carcinoma of thyroid Somatostatinoma Adrenals (calcifying fibrous pseudotumor) Meningioma malignant Mesothelioma Ovarian serous carcinoma prolactinoma (Milk) Serous endometrial carcinoma
62
dermatomyositis
progressive proximal muscle weakness, Gottron papules, heliotrope rash adenocarcinomas, especially ovarian
63
acanthosis nigricans
hyperpigmented velvety plaques in axilla and neck gastric adenocarcinoma and other visceral malignancies
64
sign of Leser-Trelat
sudden onset of multiple seborrheic keratoses GI adenocarcinomas and other visceral malignancies
65
hypertrophic osteoarthropathy
abnormal proliferation of skin and bone at distal extremities => clubbing, arthralgia, joint effusions, periostosis of tubular bones adenocarcinoma of the lung
66
hypercalcemia
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
Cushing syndrome
increased ACTH small cell lung cancer
68
hyponatremia (SIADH)
increased ADH small cell lung cancer
69
polycythemia
increased erythropoietin Pheochromocytoma, Renal cell carcinoma, Hepatocellular carcinoma, Hemangioblastoma, Leiomyoma "Paraneoplastic Rise to High Hematocrit Levels"
70
pure red cell aplasia
anemia with low reticulocytes thymoma
71
Good syndrome
hypogammaglobulinemia thymoma
72
Trousseau syndrome
migratory superficial thrombophlebitis adenocarcinoma, especially pancreatic
73
nonbacterial thrombotic endocarditis
deposition of sterile platelet thrombi on heart valves adenocarcinoma, especially pancreatic
74
anti-NMDA receptor encephalitis
psychiatric disturbance, memory deficits, seizures, dyskinesias, autonomic instability, language dysfunction ovarian teratoma
75
opsoclonus-myoclonus ataxia syndrome
"dancing eyes, dancing feet" neuroblastoma (children), small cell lung cancer (adults)
76
paraneoplastic cerebellar degeneration
antibodies against antigens in Purkinje cells small cell lung cancer (anti-Hu), gynecologic and breast cancers (anti-Yo), and Hodgkin lymphoma (anti-Tr)
77
paraneoplastic encephalomyelitis
antibodies against Hu antigens in neurons small cell lung cancer
78
Lambert-Eaton myasthenic syndrome
antibodies against presynaptic calcium channels at neuromuscular junction small cell lung cancer
79
myasthenia gravis
antibodies against postsynaptic ACh receptors at neuromuscular junction thymoma
80
t(8;14)
Burkitt lymphoma (c-myc activation)
81
t(11;14)
mantle cell lymphoma (cyclin D1 activation)
82
t(11;18)
marginal zone lymphoma
83
t(14;18)
follicular zone lymphoma (BCL-2 activation)
84
t(15;17)
APL (formerly AML type M3)
85
t(9;22)
Philadelphia chromosome; CML (BCR-ABL hybrid), less commonly ALL