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Pathophysiology > Patho Unit 2 > Flashcards

Patho Unit 2 Flashcards

Understand: - Genes and Genetic Diseases (Ch 2) - Biology, Clinical Manifestations, and Treatment of Cancer (Ch 9)

1
Q

Mutation

A

Noticeable changes in an organism

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2
Q

Reading Frame

A

3 bases at a time are read

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3
Q

Point Mutations

A
  • Do not change the reading frame
  • Change only a single base, not the entire molecule
  • Sometimes these change the protein sequence (Missense and Nonsense mutations)
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4
Q

Missense Mutation

A
  • Point Mutation

- A change from one amino acid to another

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5
Q

Nonsense Mutation

A
  • Point Mutation
  • A codon change from an amino acid to a stop codon
  • Results in an abnormally short protein
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6
Q

Frameshift Mutation

A

Changes the reading frame

  • Affects the entire molecule
  • Caused by an insertion or deletion of one or more base pairs in the DNA
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7
Q

Deletion Mutation

A

Frameshift mutation

- One base is removed

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8
Q

Insertion Mutation

A

Frameshift mutation

- One base is added

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9
Q

Mutagens

A

Agents known to increase the frequency of mutations

- Ionizing radiation, chemical agents, UV radiation, viruses

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10
Q

Base-pair Substitution

A
  • One base pair is replaced by another
  • Can result in a change in the amino acid sequence
  • If no change occurs it is a Silent Substitution
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11
Q

Mutational Hot Spots

A

Regions of DNA that are often mutated

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12
Q

Autosomes

A

In humans, chromosomes 1-22

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13
Q

Sex Chromosomes

A
  • Homologous pair (XX)

- Non-homologous pair (XY)

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14
Q

Euploid

A

Cells that have a multiple of the normal number (23) of chromosomes
(ex: Diploid and Haploid)

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15
Q

Triploid

A

A fetus has 3 copies of each chromosome

- The fetus can’t survive

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16
Q

Tetraploid

A

A fetus has 4 copies of each chromosome

- The fetus can’t survive

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17
Q

Aneuploid

A

A cell that does NOT contain a multiple of 23 chromosomes

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18
Q

Trisomy

A

A cell containing 3 copies of one of the chromosome “pairs”

- Some infants can survive with a trisomy of certain chromosomes

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19
Q

Monosomy

A

A cell containing only one of any of the chromosome “pairs”

- More often lethal

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20
Q

Disjunction

A

Distributes equal amounts of genetic material to each gamete during meiosis
- Normally one copy of each gene ends up in each gamete

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21
Q

Nondisjunction

A

During meiosis the 2 chromatids don’t separate creating a Trisomy or a Monosomy

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22
Q

Down Syndrome

A

Trisomy 21

  • Closely related to maternal age
  • Causes mental retardation, low nasal bridge, epicanthal folds, protruding tongue, poor muscle tone
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23
Q

Turner Syndrome

A

45, X

  • Females with only one X chromosome
  • Absence of ovaries, short stature, webbed neck, underdeveloped breasts, wide nipples
  • A high number of fetuses are aborted
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24
Q

Klinefelter Syndrome

A

47, XXY (2 or more X chromosomes and one Y)

  • Male appearance
  • Develop female like breasts
  • Small testes
  • Sparse body hair
  • Long limbs
  • Abnormalities increase with each additional X
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25
Q

Triplo-X

A

47, XXX

  • Phenotypically female
  • Sterility, menstrual irregularity and/or mental retardation
  • Symptoms worsen with each additional X
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26
Q

Deletions

A

Breakage resulting in loss of DNA

(ex: Cri du Chat Syndrome

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27
Q

Cri du Chat Syndrome

A
  • “Cry of the cat”
  • Deletion of short arm of chromosome 5
  • Low birth weight, mental retardation, microcephaly (small head), shrieking cry
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28
Q

Inversions

A

Breakage followed by a reversal of the fragment during re-insertion

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29
Q

Duplications

A

Replication of a gene sequence resulting in an amino acid sequence being repeated multiple times

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30
Q

Translocations

A

The interchanging of material between non-homologous chromosomes (13-14, 2-5)
- Occurs when 2 chromosomes break and the segments are rejoined in an abnormal arrangement

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31
Q

Genotype

A

The genetic makeup of an organism

- “What you have”

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32
Q

Phenotype

A

Can be a visible observation, or it can be tested for

- “What you show”

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33
Q

Penetrance

A

The proportion of individuals of a particular genotype that express its phenotypic effect in a given environment

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34
Q

Expressivity

A

The variable expression of the disease which is caused by modifier genes

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35
Q

Sex/X-Linked Recessive Diseases

A
  • Almost all x-linked disorders are
  • Males can’t be carriers, females don’t express it
  • Affected males won’t pass it onto sons but daughters will at least be carriers
  • Sons Hemophilia A and red-green color blindness
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36
Q

Sex/X-Linked Dominant Diseases

A
  • Rare

- Expressed in both sexes, greater incidence in females

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37
Q

Polygenic Traits

A

Traits involving multiple genes (hair and eye color, height)

- For Aa and Bb (2 genes) there are 8 combinations

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38
Q

Environment

A

Diets, habits, and exposures

- Have a profound influence on a large number of diseases and disorders

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39
Q

Threshold Model

A

There is a QUALITATIVE THRESHOLD at which the disease manifests
- You either have it or you don’t (you can’t be a little bit diabetic)

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40
Q

Liability

A
  • Increases as the number of genetic and/or environmental risk factors increase
  • When liability reaches a threshold a disease results
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41
Q

Recurrence Risk for Multifactorial Diseases

A

Because of various influences, it’s difficult to calculate

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42
Q

Recurrence risk increases if…

A
  • More than one family member is affected
  • The expression in the proband more severe
  • The proband is of the less commonly affected sex (woman has a heart attack)
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43
Q

Neoplasm

A

New and abnormal development of cells that don’t respond to normal growth and control mechanisms
- Not all are cancer

44
Q

Benign Neoplasms

A
  • Slow growth
  • Encapsulated
  • Non-invasive
  • Well differentiated
  • Low mitotic rate
  • Do NOT metastasize
45
Q

Malignant Neoplasms

A
  • Rapid growth
  • Non-encapsulated
  • Invade local structures and tissues
  • Poorly differentiated
  • High mitotic rate
  • DO Metastasize
46
Q

Naming Benign Tumors

A

Tissue of origin + “-oma”

47
Q

Naming Malignant Tumors

A

Benign tumor name + modifier (blast, multiple, malignant, carci-, sarc-,)

48
Q

Malignant Epithelial Tissue Neoplasm (name)

A

Carcinoma

49
Q

Malignant Connective Tissue Neoplasm (name)

A

Sarcoma

50
Q

Malignant Lymphatic Tissue Neoplasm (name)

A

Lymphosarcoma

51
Q

Carcinoma In Situ

A

CIS

  • Pre-invasive epithelial malignant tumors
  • Localized in the epithelium and has not broken through the basement membrane
52
Q

Transformation

A

Process by which a normal cell becomes a cancer cell

- Not a single event

53
Q

Anaplasia

A

Cells stop developing

  • Loss of differentiation
  • Loss of organization
54
Q

Philadelphia Chromosome

A
  • Translocation between chromosomes 9 and 22

- Present in 95% of patients with Chromic Myelogenous Leukemia (CML)

55
Q

Tumor Markers

A

Anything that indicates the presence of cancer

  • Any kind of cell product can be a marker (hormones, antibodies, enzymes, etc)
  • Tumor-Specific Antigen
  • Alteration of the genes or chromosomes in the nucleus
  • Often lack specificity, sensitivity, predictability and feasibility
56
Q

Tumor-Specific Antigen

A

TSA

- An antigen found on a cancer cell membrane could be a tumor marker

57
Q

Ectopic Hormone Production

A

The production of hormones by tumors of non-endocrine origin

58
Q

Abnormal Levels of Enzymes

A
  • Cancers don’t produce new or unique enzymes, instead abnormal levels of normal enzymes are found
  • Usually only detected when the tumor is very large or metastasis has occurred
59
Q

Viral Tumor-Specific Antigen

A

Produced and expressed by virally-transformed cells

60
Q

Oncofetal Tumor-Specific Antigens

A

Expressed by cells during embryonic development but are absent or low in normal adult cells

  • a-fetoprotein in hepatic, pancreatic, and epithelial cancers
  • Carcinoembryonic antigen (CEA) in colonic, pancreatic, and breast tumors
61
Q

Paraneoplastic Syndromes

A

Signs and symptoms unrelated to the local effects/presence of the neoplasm
- Caused by substances released from the tumor or an immune response to the tumor

62
Q

Anchorage-Independance

A

Continued growth even when unattached from original tissue

63
Q

Autonomy

A

Cancer cell’s independence from normal cellular controls

- Cell cycle control, repair, cell growth, differentiation factors, and growth factor receptors

64
Q

Proto-oncogenes

A

Unaltered, normal healthy alleles of genes that control/regulate cellular growth and differentiation

65
Q

Oncogenes

A

A proto-oncogene that has been altered (mutated) by carcinogenic agent

66
Q

Tumor-suppressor genes

A

Anti-oncogenes

- Encode for proteins that inhibit cell division

67
Q

p53 (tumor supressor) Gene Mutations

A
  • Normally activated if cells are exposed to a hypoxic environment to activate apoptosis
  • In many cancers p53 is mutated, allowing the abnormal proliferation of cells
68
Q

Autocrine Stimulation

A

Cancers acquire the ability to secrete and respond to their own growth factors
- Gene amplification allows cancer cells to create numerous copies of genes and expression of gene products

69
Q

Telemeres

A

Protective end caps of chromosomes, maintained by telomerase

  • When lost, a cell loses its ability to divide
  • Cancer cells can activate telomerase
70
Q

Angiogenesis

A
  • Contributes to the growth of new blood vessels

- Through secretion of angiogenic factors, cancers can continue to enlarge

71
Q

Chronic Inflammation

A

An associated risk factor for many types of cancer

  • Colon cancer with inflammatory bowel disease
  • Liver cancer with chronic hepatitis
  • Lung cancer with asthma
72
Q

Oncogenic Viruses

A

Viruses change the genetic makeup of the cell, which alters the daughter cell

  • Epstein-Barr Virus: Hodgkin/Burkit lymphoma
  • HPV: Cervical cancer
  • Hep B: Hepatocellular carcinoma
73
Q

Oncogenic Bacterium

A

Heliobacter pylori infects the stomach

- Most common cause of peptic ulcer disease, gastric lymphomas and carcinomas (chronic inflammation)

74
Q

Metastasis

A

The spread of cancer from the initial site to distant tissues

  • A sequence of events
  • Much harder to treat
75
Q

Detachment

A

Cells break loose from their original location

76
Q

Invasion

A

Local spread

  • Cellular proliferation
  • Barrier destruction by lytic enzymes (secretion of proteases and protease activators to digest connective tissue and eventually break through the basement membrane)
  • Down regulation of cell adhesion molecules
  • Increased motility
77
Q

Intravasation

A

Passage into vessels (blood or lymph)

  • Lymph vessels offer little resistance to single or clumps of cells
  • Blood dissemination: tumor cels form leukocyte-fibrin platelet complex to protect themselves
78
Q

Adherence in favorable sites

A

Metastatic cancer cells can spread throughout the body, but certain types have a preference for specific organs (aka organ tropism)

79
Q

Organ Tropism

A

Factors encouraging colonization

  • Growth factors from target organ
  • Hormones
  • Presence of tumor receptors
  • Route
80
Q

Extravasation

A

Leaves blood vessels and invades secondary tissue

81
Q

Colonization

A

Establishment in new tissue

82
Q

Metastasis Sequence

A
  • Local transformation and extension
  • Motility
  • Angiogenesis
  • Invasion
  • Intravasation (blood/lymph penetration)
  • Adherence at a favorable site
  • Extravasation
  • Colonization
83
Q

Stage 1

A
  • Neoplastic cells in original site

- Well differentiated cells

84
Q

Stage 2

A
  • Metastatic cell in original site an local lymphatics

- Moderately differentiated cells

85
Q

Stage 3

A
  • Cells in original site and distant lymphatics

- Poorly differentiated cells

86
Q

Stage 4

A
  • Metastatic cells are found in many areas of the body

- Very poorly differentiated cells

87
Q

Vessel Invasion (effect)

A

Bleeding

88
Q

Lymphatic Invasion (effect)

A

Lymphedema

89
Q

Nerve Invasion (effect)

A

Pain, numbness, tingling

90
Q

Bone Marrow Invasion (effect)

A

Pancytopenia, infection, and bleeding

91
Q

Liver Invasion (effect)

A

Hepatic insufficiency

92
Q

Pain (clinical manifestation)

A
  • Little to none early on
  • Influenced greatly by psychological responses
  • Pressure
  • Terminal cancer usually manifests severe pain
93
Q

Fatigue (clinical manifestation)

A

Due to

  • Sleep disturbance
  • Biochemical changes
  • Diminished activity
  • Nutritional status
94
Q

Anemia (clinical manifestation)

A

Reduction in red blood cell numbers

  • Chronic bleeding
  • Malnutrition
  • Therapies
  • Malignancy in blood forming organs
  • Malignancy in bone marrow can cause Leukopenia and Thromboycytopenia
95
Q

Infection (clinical manifestation)

A
  • Most common event leading to death
  • Reduction in immune function due to treatment
  • Poor wound care
  • Compromised patient care
96
Q

Cachexia Syndrome

A

State of ill heath, wasting, emaciation, and decreases quality of life
- Present in 80% of cancer deaths

97
Q

Chemotherapy

A

Intended to destroy cells in a stage of vulnerability (mitotically active cells), usually a cocktail
- Must eliminate enough cells to allow immune system to destroy the rest

98
Q

Chemotherapy (molecular era anti cancer drugs)

A

Targeted therapy

  • Enzyme inhibitors
  • Monoclonal antibodies (directed at a specific tumor antigen)
99
Q

Radiation

A

Damages DNA of rapidly dividing neoplastic cells

- General and targeted

100
Q

Surgical Therapy

A

Exclusion, debulking, palliative

101
Q

Locus

A

The physical or “geographic” location of a gene along the chromosome

102
Q

Allele

A

A different form or copy of a particular gene (flavor)

103
Q

Pancytopenia

A

All blood counts are low

104
Q

Leukopenia

A

Low white blood cell count

105
Q

Thromboycytopenia

A

Low platelet count

106
Q

Motility

A

The ability to move spontaneously

107
Q

Loss of Heterozygosity

A

Loss of one copy (allele) of a specific chromosome region
- For the function of a tumor suppressor gene to be lost, both chromosomal copies of the gene must be inactivated (the dominant form is mutated)

Pathophysiology (11 decks)

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