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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
Chromosome 6 disorder
Hemochromatosis (HFE)
26
Chromosome 7 disorder
Williams syndrome, cystic fibrosis
27
Chromosome 9 disorder
Friedreich ataxia, tuberous sclerosis (TSC1)
28
Chromosome 11 disorder
WIlms tumore, Beta globin gene defects (sickle cell disease, Beta thalassemia), MEN1
29
Chromosome 13 disorder
Patau syndrome, wilson disease, retinoblastoma (RB1), BRCA2
30
Chromosome 15 disorder
Prader-WIlli syndrome, Angelman syndrome, Marfan syndrome
31
Chromosome 16 disorder
ADPKD (PKD1, alpha globin gene defects (alpha thalassemia), tuberous sclerosis (TSC2)
32
Chromosome 17 disorder
Neurofibromatosis type 1, BRCA1, TP53 (Li-Fraumeni syndrome)
33
Chromosome 18 disorder
Edwards syndrome
34
Chromosome 21 disorder
Down Syndrome
35
Chromosome 22 disorder
neurofibromatosis type 2, DiGeorge syndrome (22q11)
36
Chromosome X disorder
Fragile X syndrome, X linked agammaglobulinemia, Klinefelter syndrome (XXY)
37
Type 1 collagen issue
Osteogenesis Imperfecta type 1
38
Type 3 collagen issue
deficient in vascular type of Ehlers-Danlos syndrome
39
Type 4 collagen issue
Defective in Alport syndrome and targeted by autoantibodies in goodpasture syndrome (attack basement membranes)
40
HER2/neu (ERBB2)
tyrosine kinsase receptor breast and gastric carcnomas
41
RET
REceptor Tyrosine kinase MEN 2a and MEN 2b (medullary and papillary thyroid carcinoma), pheochromocytoma
42
BCR-ABL
CML, ALL non receptor tyrosine kinase
43
BRAF
oncogene serine/threonine kinase melanoma, non-hodgkin lymphoma, colorectal carcinoma, papillary thyroid carcinoma, hairy cell leukemia
44
c-MYC
transcription factor Burkitt lymphoma
45
MYCN or n-MYC
transcription factor neuroblastoma
46
KRAS
RAS GTPase colorectal, lung, pancreatic cancers
47
BCL-2
antiapoptotic molecule Follicular and diffuse large B-Cell lymphomas inhibited by venetoclax which will prmote apoptosis via activation of caspases
48
BRCA1/BRCA2
tumor suppressor genes breast, ovarian, prostate, pancreatic cancers
49
MEN1
MENin multiple endocrine neoplasia type 1 pituitary, pancreas, parathyroid
50
NF1
neurofibromin (RAS GTPase activating protein neurofibromatosis type 1
51
NF2
Merlin (schwannomin) protein Neurofibromatosis type 2
52
PTEN
negative regulator of PI2k/AKT pathway prostate, breast, endometrial cancers
53
RB1
inhibits E2F blocks G1 to S phase retinoblastoma, osteosarcoma
54
TP53
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
VHL
von Hippel-Lindau disease
56
WT1
urogenital development trascription factor Wilms Tumor (nephroblastoma)
57
Neurofibromatosis type 1 vs 2
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
MLH1
DNA mismatch repair gene associated with lynch syndrome and breast cancer
59
CCR5 and CXCR4
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
CD4
surface protein allow binding of CD4 T cells to the MHC class II molecules on antigen presenting cells
61
CD21
part of B cell coreceptor complex
62
JAK 2
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
MYCL1 or L-myc
lung cancer
64
Terminal deoxynucleotidyl transferase (TdT)
marker for immature lymphocytes because its gene is exclusively transcribed by lymphoblasts during their early phases of maturation
65
Elevated ESR lab
inflammation present
66
CREST syndrome
less severe form of scleroderma calcinosis cutis, Raynaud phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasia.
67
SLE antibodies
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
Systemic sclerosis antibodies
Anti-Scl-70 (anti-topoisomerase antibody I: seen in 30–70% of cases Anticentromere Anti-RNA polymerase III
69
Sjogren syndrome antibodies
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
Myeloperoxidase antibody and Proteinase-3 antibody
p-ANCA and c-ANCA
71
HLA B27
reactive arthritis (Chrohn's as well)
72
Anti-dsDNA antibodies
SLE
73
Borrelia burgdorferi
Ixodes tick lyme disease
74
HLA-DQ2 proteins on WBCs
Celiac Disease
75
IgM antibodies against the Fc region of IgG
Rhumatoid factors ACPA (anti-citrullinated peptide antibodies are more specific to RA
76
22q11.2
DiGeorge Syndrome defective development of 3rd and 4th pharyngeal pouches CATCH-22 (cardiac anomalies, anomolous face, thymus aplasia, cleft palate, hypocalcemia)
77
NF-kB
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
HLA-DR4 and HLA-DR3 association
DM1
79
HLA-A3
Hemochromatosis
80
Alendronate
bisphosphanate stops osteoclast function
81
Cinacalcet
calciemetic that allosterically activates the calcium sensitive receptor in parathyroid gland lowers PTH
82
Prednisone effect on calcium?
can worsen hypoglycemia by decreasing expression of Vit D receptor
83
primary tx for hyperthyroidism?
radioactive iodine, thyroidectomy, methimazole (inhibits thyroperoxidase)
84
sevelamer
non absorbable phosphate binding polymer that decreases phosphate absorption in GI tract
85
Isoniazid
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
Essential Tremor tx
Beta blockers
87
epinephrine effect for allergies
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
Mycobacterium tuberculosis
gram (+) acid fast bacillus causing tb

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