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Mechanisms of Disease BLD 204 > Exam 3 Objectives > Flashcards

Exam 3 Objectives Flashcards

1
Q

Define neoplasm

A

New growth (abnormal).
Neoplastic cells continue to replicate unaffected by controls of the cell cycle.
Tend to increase in size regardless of their local environment.
Disorderly cell proliferation, differentiation, and relationship to the surrounding stroma.
Depend on the host for their nutrition and blood supply.

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2
Q

Define tumor

A

A neoplasm.
Can be malignant or benign.
Malignant is cancerous - the lesion can invade and destroy adjacent structures and spread to distant sites (metastasize) to cause death.
Benign - remains local and relatively innocent.

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3
Q

Define carcinogenesis

A

Cells in a tumor can be caused be genetic mutations that are induced by environmental insult such as chemicals, radiation, or viruses.

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4
Q

Define oncology

A

Study of tumors.
Oncos = tumor
Logos = study of

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5
Q

Discuss the fundamental characteristics of all cancers

A

A genetic disorder caused by DNA mutations that can be spontaneous or induced.
Frequently show epigenetic changes.
Altered expression or function of key genes that regulate fundamental cellular processes such as growth, survival, and senescence.

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6
Q

Assess wether a neoplasm change is benign or malignant using all of the proper criteria

A 
Benign:
Doesn't invade surrounding tissue
No metastasis 
Growth rate is low
Little mitosis
Some atrophy of surrounding tissue by pressure of the mass
Malignant:
Invades surrounding tissues - invasive
Metastasis
Lots of mitosis and growth - increased proliferation 
Damages surrounding tissue
Abnormal tissue formation
Incomplete differentiation
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7
Q

Describe the morphologic changes associated with anaplasia

A

Lack of differentiation.
Backward formation - loss of the structural and functional differentiation of normal cells.
Often cells remain “stuck” in more immature states. The more immature, the worse the outcome.
Immature, undifferentiated cells exhibit behaviors, that they sounds’t, like expressing fetal proteins or hormones.

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8
Q

Compare and contrast metastatic neoplasm with dysplasia

A

Dysplasia: cell changes indicative of malignancy but no invasion present yet. It is a warning sig. Common in epithelial tissues.
If the whole depth of the tissue is dysplasia, then the term carcinoma in situ is used.

Metastatic neoplasm has invades other tissues and spreads from origin to other parts of the body.

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9
Q

Compare and contrast papillomas and adenomas

A

Papilloma:
Epithelial cells growing in a sheet
Squamous, transitional or columnar

Adenoma:
Solid islands or masses of cells
Arising from gland or duct epithelium 
Small groups of cells gather around a lumen 
No real drainage - cyst may develop
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10
Q

Compare and contrast carcinoma and sarcoma

A

Carcinoma:
Malignant
From epithelial cells

Sarcoma:
Type of carcinoma
Malignant 
Arising in "solid" mesenchymal tissues
Designated by the cell type they are composed of (cell or origin)
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11
Q

Contrast neoplastic differentiation defects with metaplasia

A

??

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12
Q

Compare and contrast normal cell adaptations to stress to neoplastic growth

A

Non-neoplastic changes cease when stimulus is removed

Neoplastic changes don’t respond to normal stimulus - autonomous behavior

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13
Q

Discuss physiological negative feedback loops

A

Non-neoplastic changes cease when stimulus is removed
Neoplastic changes don’t respond to normal stimulus - autonomous behavior

Hyperplasia:
A response to an increase in functional need
Controlled by negative feedback mechanisms

Congenital hyperplasia:
Defective adrenal cells cause decrease in cortisol and aldosterone.
Increased adrenocorticopic hormone from pituitary.
Made more adrenal cells which still don’t work. Buildup precursors of hormones get used for steroid production instead.
Example of negative feedback not working.

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14
Q

Name the enzyme groups which control the cell cycle

A 
Cyclins: regulate progression through the cell cycle
Cyclin dependent kinases (CDKs): activated by binding to cyclins, maintain orderly progression 
CDK inhibitors (CDKIs): broad and selective inhibitors of CDKs
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15
Q

List the hallmarks of cancer and discuss the genetic alterations that occur in each

A
  1. Self-sufficiency in growth signals
    * Cancer cells overexpress growth factor receptors
    * Can have receptors that are always on - don’t need GF
    * Over expression of EGF
    * Signal transducing proteins: RAS and ABL
    * Nuclear transcription factor: MYC
    * Cyclins, CDKs (increased), CDKIs (decreased or inhibited)
  2. Insensitivity to growth inhibitory signals
    * Tumor suppressor genes
    * RB (the governor), TP53 (the guardian), TGF-beta, Contact inhibition pathways
    * Something is wrong with one of these signals and cells grow out of control
    * Cadherins: mediate cell-to-cell contact
  3. Evasion of cell death
    * BAX-BAK pro-apoptotic
    * BCL2 anti-apoptotic
    * Avoid autophagy
  4. Limitless replicative potential
    * Telomerase
    * Ends of chromosomes get connected
  5. Development of sustained angiogenesis
    * VEGF, HIF-1alpha, VHL, FGF, ECM
  6. Ability to invade and metastasize
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16
Q

Discuss how each of the hallmarks of cancer contributes to the phenotype of cancer cells

A

?

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17
Q

Describe the three types of spread of tumors within the body

A

Seeding within body cavities

Lymphatic spread

Hematogenous spread

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18
Q

List and describe the steps that occur in metastasis

A
  1. Liberation from the first tumor
  2. Invasion of surrounding tissues to get to a transfer tubing
  3. Adhere to the basement membrane of the blood vessel
  4. Transfer in tubing as an emboli
  5. Adhesion at endothelium
  6. Migration from the vessel
  7. Survival (angiogenesis)
  8. Multiplication and growth of new tumor much like the original
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19
Q

Link the processes which are required for invasion to the characteristics of a metastatic tumor that contributes to its invasion

A

?

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20
Q

Explain how most cancers result from monoclonal expansion but can then become more aggressive and resistant to treatment overtime

A

?

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21
Q

List and describe the function of the four classes of normal regulatory genes which are the primary targets of genetic damage leading to neoplastic changes

A

?

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22
Q

Describe the two types of tumor suppressor genes

A

?

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23
Q

Describe the types of chromosomal lesions that can be observed in tumor cells

A

?

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24
Q

Explain how epigenetic changes and microRNA mutations can be involved in neoplastic transformation

A

?

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25
Q

List the five factors that contribute to an individual’s risk of developing cancer

A
  1. Geographic and environmental variable - sun exposure
  2. Age - older people tend to have a higher risk
  3. Heredity - specific alleles, mutations, etc.
  4. Diseases - chronic inflammation
  5. Immunosuppressed
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26
Q

List the categories of carcinogenic agents

A

Direct-Acting Agents
Require no metabolic conversion to become carcinogenic
Can be used as a treatment of cancer and cause another form of cancer (usually leukemia)

Indirect-Acting Agents
Require metabolic conversion

Radiation
Chromosomal breakage
Translocations

Microbial and Viral

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27
Q

Contrast direct-acting chemical carcinogens with indirect-acting agents

A

Direct-acting does not need a metabolic change to cause damage like indirect-acting agents do.

Direct-acting is very hard on the body

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28
Q

Describe two theories of radiation and carcinogenesis

A

Direct: radiation itself damages DNA

Indirect: radiation activates dormant viral oncogenes

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29
Q

Type of cancer associated with HPV

A

Warts and cervical cancer

Interactions with Rb and p53 released transcription factors normally sequestered

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30
Q

Type of cancer associated with EBV

A

Burkitt’s lymphoma and many others
Attaches to B cells through CD21
Causes proliferation and generation of lymph-blastoid cell lines

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31
Q

Type of cancer associated with HBV and HCV

A

Hepatocellular carcinomas

Chronic inflammation causes cellular injury, hepatocyte proliferation and ROS production

32
Q

Type of cancer association with H. pylori infection

A

First implicated in peptic ulcers.
First bacterial carcinogen
Gastric cancer

33
Q

Describe hamartoma.

A

Tumor-like mass
Lacks autonomous behavior
Good differentiation and in the right organ
Organization is different from normal
Vascular most common
Considered developmental malformations but studies have shown acquired translocations- neoplastic origin

34
Q

Describe Choristoma

A

Congenital abnormality

Consists of heterotypic rest of cells

35
Q

Describe heteroplasia

A

Differentiation of tissue is wrong for location
Not metaplasia, no change from one fully differentiated form to another
Happens at the stem cell stage
Just a mass that doesn’t belong there
Masses of various types or one type of tissue

36
Q

How does mechanical pressure/obstruction effect neoplasm on the host?

A

Damage is dependent upon site versus tumor size. Sometimes, the pattern of spread is also important.
Bad places for this type of damage: brain, restrictive places, bone

37
Q

How does tissue destruction effect neoplasm on the host?

A

Breakdown of tissue can be either by pressure or invasive properties of the tumor.
Bone destruction can lead to fractures and hypercalemia.
Tumors release proteases that can influence and destroy tissues/bones around them.

38
Q

How does hemorrhage effect neoplasm on the host?

A

Common in epithelial tumors and cancers of the colon.
Ulceration and blooding occur, usually not dramatically.
This chronic loss can lead to anemia
Less commonly, serious bleeding can occur in stomach and intestinal tumors.
Bleeding all the time - may not know you are.

39
Q

How does infection effect neoplasm on the host?

A

Patients are susceptible to infection due to blocked drainage (venous and lymph), ulceration, and immunosuppression.

40
Q

How does fever effect neoplasm on the host?

A

Common in many types of malignant neoplasm. Caused by release of cytokines (IL-1, TNF-alpha) from the tumor cells or macrophages.
Signals to turn up the heat.

41
Q

How does cachexia effect neoplasm on the host?

A

Weight loss and wasting later in disease. Contributing factors: anorexia, malabsorption, toxic products, TNF-alpha.

42
Q

How does defects in the immune system effect neoplasm on the host?

A

?

43
Q

How does anemia effect neoplasm on the host?

A

?

44
Q

How does defects in hormone production effect neoplasm on the host?

A

?

45
Q

List and describe the four categories of laboratory methods used to provide diagnosis, theranosis, or prognosis in oncology.

A

Morphology of tissues and cells

Tumor markers
PSA - prostate specific antigen
CEA - gastrointestinal (pancreas, breast)
Alpha fetoprotein (AFP) - liver and gonads

Molecular diagnosis
DNA, RNA
Diagnosis
Prognosis and behavior
Hereditary disposition 
Therapeutics

Molecular profiling
Expression profiling
Whole genome sequencing
Individuated medicine

46
Q

Describe the effects the host immune system could have on tumors and the parts of the immune system which would mediate those effects

A

?

47
Q

Discuss the concepts of immune surveillance and immune evasion in the context of cancer

A

?

48
Q

Define congenital vs. hereditary disease.

A

Congenital: present at birth

Hereditary: passed on genetically from parent to offspring

Can be both congenital and hereditary, just congenital or just hereditary.

49
Q

Define genotype.

A

What the genetics are, what the DNA code is

50
Q

Define phenotype.

A

The observable outcome of the DNA code.

51
Q

Define karyotyping.

A

Analysis of whole chromosomes. Can look at number of chromosomes and size of chromosomes.

52
Q

Define mutation.

A

?

53
Q

Define nondisjunction

A

?

54
Q

Define inversion

A

Breaks or moving around occur in the same chromosome
Paracentric: same side of the centromere
Pericentric: opposite sides of the centromere

55
Q

Define autosomal dominant

A

On a non-sex chromosome. Only need one copy to show the phenotype.

56
Q

Define autosomal recessive

A

On a non-sex chromosome. Need to have two copies of the allele to show the phenotype

57
Q

Define sex-linked recessive

A

On the X chromosome there is a mutation that causes an unfavorable phenotype

For females need to have the unfavorable phenotype on both copies of the X to show the phenotype.

For males, they will expose the phenotype as they only have one X chromosome.

58
Q

Define aneuploidy

A

Not a multiple of 23.
Trisomy: extra chromosome
Monosomy: loss of one chromosome

59
Q

Define mendelian inheritance

A

?

60
Q

Define deletion

A

?

61
Q

Define translocation

A

Balanced - reciprocal transfer of segments between chromosomes
CML- translocation 9-22

Robertsonian:
One very large and one very small.
Long arm and short arm of another.
Really visible when this happens.

62
Q

List four different factors that are known to be associated with variations in the genetic structure

A

?

63
Q

Differentiate between autosomal and sex-linked disorders based on the chromosomes involved.

A

?

64
Q

Define cytogenetic disorder

A

?

65
Q

Define and describe Down’s syndrome based on cytogenic alteration, proposed mechanism by which it occurred, major clinical features, incidence, life expectance, and prenatal screening procedures.

A

Trisomy 21
Most common cytogenetic disorder: 1:700 in US
More likely in women who are 35 or older
Cause is meiotic nondisjunction
Congenital
Clinical symptoms: visible symtoms (face, hands, long bones), eye diseases, sleep apnea, hearing loss, cardiovascular, hematology, increased susceptibility to infection, CNS reduced IQ, reduced life expectancy (late 40s).

66
Q

Define and describe Klinefelter’s syndrome based on cytogenic alteration, proposed mechanism by which it occurred, major clinical features, incidence, life expectance, and prenatal screening procedures.

A

Extra X chromosome in phenotypic male
Nondisjunction leads to XXY
May have more than one extra X, but at least one.
Contributing factors: advanced maternal age, radiation of either parent (epidemiology)
Clinical features: hypogonadism (too little testosterone, underdeveloped genitals), increased leg length, wide pelvis, reduced facial and body hair, gynecomastia (increased breast tissue)

67
Q

Using chronic myelocytic leukemia as the example, explain the chromosomal alteration associated with this type of leukemia and give the name specifically associated with this chromosomal alteration .

A

?

68
Q

List and describe the type of mutations from which single gene defects may arise

A

Autosomal or sex-linked

can be dominant or recessive

69
Q

Describe the mode of inheritance, the specific metabolic alteration and the clinical symptoms and consequences of familial hypercholesterolemia

A 
Autosomal dominant. 
LDL receptor defect - can't remove LDL
Premature atherosclerosis (serious artery problems)
70
Q

Describe the inborn errors of metabolism, the mode of inheritance, the specific metabolic pathway affected, the enzyme defect, the clinical manifestations, and treatment where applicable of phenylketonuria.

A

?

71
Q

Describe the genetic basis of hemophilia A, state which clotting factor is missing and give the conceal consequences of this abnormality. State an appropriate method for treating this disorder.

A

?

72
Q

Differentiate between an autosomal dominant mode of inheritance and an autosomal recessive pattern

A

Dominant: parent is affected or at least heterozygous, phenotype is expressed at the same rate in males and females, see the mutant phenotype in every generation, genes are for regulatory proteins and structural proteins

Recessive: parents may not have phenotype, parents are at least heterozygous,
penetrance is usually complete, frequency for males and females is equal, genes are for coding enzymes

73
Q

Discuss the genetic basis of cystic fibrosis

A

?

74
Q

Discuss the genetic basis of alpha-1 antitrypsin deficiency

A

AAT suppresses proteases in the lungs - elastase
Without functional AAT, emphysema can result
Three alleles M, S, Z
M is normal
S produces a lower amount of AAT
Z results in loss of AAT production

75
Q

Describe the inborn errors of metabolism, the mode of inheritance, the specific metabolic pathway affected, the enzyme defect, the clinical manifestations, and treatment where applicable of galactosemia.

A

Autosomal recessive
Lack of GALT enzyme which helps convert galactose and glucose
Metabolites from galactose accumulate in liver, eyes, kidneys, spleen and cerebra cortex
First signs are vomiting and diarrhea when given milk, then jaundice
Removal of galactose from diet helps severe complications

76
Q

Explain the differences between Prader-Willi syndrome and Angelman syndrome in the context of genomic imprinting

A

Takes a deletion to be expressed; imprinting is normal for both

Prader-Willi:
Mental retardation, short stature, hypotonia (low muscle tone), obesity, hypogonadism, deletion is parental

Angelman:
Mental retardation, ataxic gaid (inability to walk smoothly), seizures, inappropriate laughter, maternal selection

77
Q

Tay-Sachs disease is a lysosomal storage disease, discuss the mode of inheritance, the specific metabolic defect, the clinical manifestations and the prognosis.

A

Gangliosidosis: accumulation of gangliosides in brain. Gangliosides are complex molecules made up of glycosphingolipid and sialic acid.
Most common in Ashkenazi Jewish population and French Canadians
Deficiency is a catabolic enzyme in the lysosome so gangliosides hand around
Mainly affects neurons where gangliosides are metabolized
100 mutations that have been identified
Don’t have to do a full DNA test
Unfolded protein response is involved in stimulating apoptosis in the mitochondrial intrinsic pathway
Molecular chaperone therapy
Acute disease has onset at 3-6 months: progressive weakness, blindness, severe neurologic dysfunctions, death in 2-3 years

Mechanisms of Disease BLD 204 (9 decks)

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