Oncogenes, Tumor suppressor genes, Tumor Markers, etc. Flashcards

1
Q

What does IL-2 signal?

A

produced by lymphocytes

stimulated the growth of helper, cytotoxic, and regulatory T cells and natural killer cells

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2
Q

What does IL-1 signal?

A

produced by macrophages, dendritic cells, and epithelial and endothelial cells

responsible for causing fever and acute inflammation

activates endothelium to express adhesion molecules promoting futher inflammation

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3
Q

What does IL-10 signal?

A

anti-inflammatory cytokine secreted by Th2 cells

downregulates Th17 responses, inhibits IL-12 and Interferon gamma, decreases representation of MHC class II

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4
Q

What does IL-5 signal?

A

secreted by Th2 and targets B cells

involved in IgA class switching as well as differentiation of B cells and eosinophils

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5
Q

What does IL-6 signal?

A

produced by T and B cells, fibroblasts, and macrophages

contributes to the production of acute-phase proteins and induces B-cell differentiation

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6
Q

What does IL-8 signal?

A

attracts nuetrophils to site of inflammation

secreted by monocytes, neutrophils, epithelial cells, fibroblast, and endothelial cells

“CLEANUP on aisle 8”

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7
Q

What does TNF alpha signal?

A

activates endothelium, causes WBC recruitment and vascular leak

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8
Q

What does IL-3 signal?

A

supports growht and differentiation of BONE marrow stem cells

functions like GM-CSF

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9
Q

What does Interferon gamma signal?

A

secreted by NK cells and TK cells in reposes to antigen of IL-12 from macrophages

stimulates macrophages to kill phagocytosed pathogens

inhibits differentiation of Th2 cells

increases IgG isotype switching in B cells

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10
Q

What does IL-4 signal?

A

induces differentiation of T cells into Th2 (helper) cells

promotes growth of B cells, enhances class switching to IgA

stimulates growth and differentiation of Eosinophils

ain’t too proud “2 BEG 4 help”

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11
Q

What does IL-13 signal?

A

Promotes IgE production by B cells

induces alternative macrophage activation

“IL-thirtEEn promotes IgE”

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12
Q

Tumor Marker CA 125

A

Ovarian Cancer

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13
Q

Tumor Marker CA 15-3

A

Breast Cancer

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14
Q

Tumor Marker CA19-9

A

Pancreatic Cancer

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15
Q

Tumor Marker PSA

A

Prostate

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16
Q

Tumor Marker CEA

A

Colorectal

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17
Q

Tumor Marker AFP

A

Teratoma

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18
Q

Tumor Marker LDH

A

Seminoma

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19
Q

Tumor Marker Beta-HCG

A

Choriocarcinoma

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20
Q

Tumor Marker NSE

A

Small cell lung cancer or SCLC

NSE found in lots of neuroendocrine tumors but mostly SCLC

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21
Q

MLH1 gene

A

Germline mutation of MLH1 gene prompts Lynch syndrome.

hereditary nonpolyposis colorectal cancer

instability of short tandem DNA repeats

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22
Q

Chromosome 3 disorder

A

von Hippel-Lindau disease, renal cell carcinoma

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23
Q

Chromosome 4 disorder

A

ADPKD (PKD2), achondroplasia, Huntington disease

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24
Q

Chromosome 5 disorder

A

Cri-du-chat syndrome, familial adenomatous polyposis

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25
Q

Chromosome 6 disorder

A

Hemochromatosis (HFE)

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26
Q

Chromosome 7 disorder

A

Williams syndrome, cystic fibrosis

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27
Q

Chromosome 9 disorder

A

Friedreich ataxia, tuberous sclerosis (TSC1)

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28
Q

Chromosome 11 disorder

A

WIlms tumore, Beta globin gene defects (sickle cell disease, Beta thalassemia), MEN1

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29
Q

Chromosome 13 disorder

A

Patau syndrome, wilson disease, retinoblastoma (RB1), BRCA2

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30
Q

Chromosome 15 disorder

A

Prader-WIlli syndrome, Angelman syndrome, Marfan syndrome

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31
Q

Chromosome 16 disorder

A

ADPKD (PKD1, alpha globin gene defects (alpha thalassemia), tuberous sclerosis (TSC2)

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32
Q

Chromosome 17 disorder

A

Neurofibromatosis type 1, BRCA1, TP53 (Li-Fraumeni syndrome)

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33
Q

Chromosome 18 disorder

A

Edwards syndrome

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34
Q

Chromosome 21 disorder

A

Down Syndrome

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35
Q

Chromosome 22 disorder

A

neurofibromatosis type 2, DiGeorge syndrome (22q11)

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36
Q

Chromosome X disorder

A

Fragile X syndrome, X linked agammaglobulinemia, Klinefelter syndrome (XXY)

37
Q

Type 1 collagen issue

A

Osteogenesis Imperfecta type 1

38
Q

Type 3 collagen issue

A

deficient in vascular type of Ehlers-Danlos syndrome

39
Q

Type 4 collagen issue

A

Defective in Alport syndrome and targeted by autoantibodies in goodpasture syndrome (attack basement membranes)

40
Q

HER2/neu (ERBB2)

A

tyrosine kinsase receptor

breast and gastric carcnomas

41
Q

RET

A

REceptor Tyrosine kinase

MEN 2a and MEN 2b (medullary and papillary thyroid carcinoma), pheochromocytoma

42
Q

BCR-ABL

A

CML, ALL

non receptor tyrosine kinase

43
Q

BRAF

A

oncogene
serine/threonine kinase

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

44
Q

c-MYC

A

transcription factor

Burkitt lymphoma

45
Q

MYCN or n-MYC

A

transcription factor

neuroblastoma

46
Q

KRAS

A

RAS GTPase

colorectal, lung, pancreatic cancers

47
Q

BCL-2

A

antiapoptotic molecule

Follicular and diffuse large B-Cell lymphomas

inhibited by venetoclax which will prmote apoptosis via activation of caspases

48
Q

BRCA1/BRCA2

A

tumor suppressor genes

breast, ovarian, prostate, pancreatic cancers

49
Q

MEN1

A

MENin

multiple endocrine neoplasia type 1

pituitary, pancreas, parathyroid

50
Q

NF1

A

neurofibromin (RAS GTPase activating protein

neurofibromatosis type 1

51
Q

NF2

A

Merlin (schwannomin) protein

Neurofibromatosis type 2

52
Q

PTEN

A

negative regulator of PI2k/AKT pathway

prostate, breast, endometrial cancers

53
Q

RB1

A

inhibits E2F blocks G1 to S phase

retinoblastoma, osteosarcoma

54
Q

TP53

A

p53, activates p21, blocks G1 to S phase

most cancers, Li-Fraumeni syndrome (multiple malignancies at early age aka SBLA syndrome: sarcoma, breast, leukemia, adrenal gland)

55
Q

VHL

A

von Hippel-Lindau disease

56
Q

WT1

A

urogenital development trascription factor

Wilms Tumor (nephroblastoma)

57
Q

Neurofibromatosis type 1 vs 2

A

Type 1 - chromosome 17 (encodes neurofibromin a negative RAS regulator), cafe-au-lait spots, lisch nodules (pigmented iris hamartomas) seizures/focal neurologic signs (often from meningioma), bone lesions

Type 2 - chromosome 22, Merlin gene mutation, BOTH EARS AND BOTH EYES, bilateral vestibular schwannomas, juvenile cataracts, meningiomas, ependymomas

58
Q

MLH1

A

DNA mismatch repair gene

associated with lynch syndrome and breast cancer

59
Q

CCR5 and CXCR4

A

used by HIV for fusion with our cells, at first CCR5 and later CXCR4 but need a CD4 receptor as well

Homozygous mutations of the CCR5 receptor (CCR5Δ32 deletion) give individuals immunity against HIV infection, while heterozygous mutations slow the course of the disease

60
Q

CD4

A

surface protein allow binding of CD4 T cells to the MHC class II molecules on antigen presenting cells

61
Q

CD21

A

part of B cell coreceptor complex

62
Q

JAK 2

A

kinase that belongs to the group of intracellular tyrosine kinases involved in cytokine-mediated signaling

myeloproliferative neoplasms, including polycythemia vera, primary myelofibrosis, and essential thrombocythemia.

63
Q

MYCL1 or L-myc

A

lung cancer

64
Q

Terminal deoxynucleotidyl transferase (TdT)

A

marker for immature lymphocytes because its gene is exclusively transcribed by lymphoblasts during their early phases of maturation

65
Q

Elevated ESR lab

A

inflammation present

66
Q

CREST syndrome

A

less severe form of scleroderma

calcinosis cutis, Raynaud phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasia.

67
Q

SLE antibodies

A

Anti-dsDNA (in ∼ 70% of cases)
Anti-Sm (Smith)

Anti-histone (in drug-induced lupus erythematosus)
Anti-Ro/SSA
Anti-La/SSB
Anti-U1 RNP (ribonucleoprotein)

Antiphospholipid antibodies (anti-cardiolipin most common type)
Anti-C1q antibodies (correlates with disease activity)
68
Q

Systemic sclerosis antibodies

A

Anti-Scl-70 (anti-topoisomerase antibody I: seen in 30–70% of cases

Anticentromere
Anti-RNA polymerase III

69
Q

Sjogren syndrome antibodies

A

Anti-Ro/SSA
Anti-La/SSB
60–80% of patients positive for one or both antibodies

Rheumatoid factor (RF); present in > 50% of patients
Anti-CCP
Salivary gland antibodies

70
Q

Myeloperoxidase antibody and Proteinase-3 antibody

A

p-ANCA and c-ANCA

71
Q

HLA B27

A

reactive arthritis (Chrohn’s as well)

72
Q

Anti-dsDNA antibodies

A

SLE

73
Q

Borrelia burgdorferi

A

Ixodes tick

lyme disease

74
Q

HLA-DQ2 proteins on WBCs

A

Celiac Disease

75
Q

IgM antibodies against the Fc region of IgG

A

Rhumatoid factors

ACPA (anti-citrullinated peptide antibodies are more specific to RA

76
Q

22q11.2

A

DiGeorge Syndrome

defective development of 3rd and 4th pharyngeal pouches

CATCH-22 (cardiac anomalies, anomolous face, thymus aplasia, cleft palate, hypocalcemia)

77
Q

NF-kB

A

transcription factor involved in the regulation of multiple inflammatory and immunologic processes. Activates COX-2. Glucocorticoid therapy inhibits NF-κB and results in immunosuppression.

78
Q

HLA-DR4 and HLA-DR3 association

A

DM1

79
Q

HLA-A3

A

Hemochromatosis

80
Q

Alendronate

A

bisphosphanate

stops osteoclast function

81
Q

Cinacalcet

A

calciemetic that allosterically activates the calcium sensitive receptor in parathyroid gland

lowers PTH

82
Q

Prednisone effect on calcium?

A

can worsen hypoglycemia by decreasing expression of Vit D receptor

83
Q

primary tx for hyperthyroidism?

A

radioactive iodine, thyroidectomy, methimazole (inhibits thyroperoxidase)

84
Q

sevelamer

A

non absorbable phosphate binding polymer that decreases phosphate absorption in GI tract

85
Q

Isoniazid

A

one of 4 TB drugs

metabolized via acetylation to N-acetyl-Isoniazid

adverse effects include hepatic damage
do not take with foods containing thiamine

MOA: inhibit bacterial cell wall synthesis following activation by the bacterial catalase–peroxidase enzyme KatG in Mycobacterium tuberculosis (Mtb)

86
Q

Essential Tremor tx

A

Beta blockers

87
Q

epinephrine effect for allergies

A

Alpha 1 - vasoconstriction
Beta 1 - increase heart contractility,
beta 2 - increase bronchodilation
binds to mast cells via beta 2 and stops degranulation of histamines

88
Q

Mycobacterium tuberculosis

A

gram (+) acid fast bacillus causing tb