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Molecular Diagnosis > Molecular Oncology > Flashcards

Molecular Oncology Flashcards

1
Q

What is oncology?

A

Oncology is the study of tumors

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2
Q

A tumor or neoplasm can either be

A

Benign or malignant

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3
Q

What is the difference between a benign and malignant tumor?

A

A benign tumor is non-recurrent whereas a malignant tumor is invasive and recurs at multiple sites.

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4
Q

What is cancer?

A

Cancer is neoplasm that includes all malignant tumors whether solid of hematologic.

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5
Q

Define molecular oncology

A

This is the study of tumors at the molecular level, using techniques to allow direct detection of genetic alterations.

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6
Q

What are the three classifications of tumors?

A

Solid
Benign
Hematological

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7
Q

What are solid tumors?

A

Abnormal masses that usually contain no cysts or liquid, tumors designated by tissue of organ.

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8
Q

What are examples of solid tumors?

A

Carcinomas
Sarcomas
Teratocarcinomas

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9
Q

Carcinomas are tumors of the

A

Epithelial tissue.

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10
Q

Tumors of the epithelial tissue are called

A

Carcinomas.

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11
Q

What are sarcomas?

A

Tumors of the bone, cartilage, muscle, blood vessels, and fat tissue.

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12
Q

What is the name given to neoplasms occurring in the bone, cartilage, muscles, blood vessels, and even fat tissues?

A

Sarcomas

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13
Q

Neoplasms affecting multiple cell types are called

A

Teratocarcinomas.

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14
Q

A malignant tumor that starts in mucus-producing glands of the body is called

A

Adenocarcinoma

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15
Q

A benign glandular tumors is called

A

Adenoma

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16
Q

Hematological tumors arise from what?

A

WBCs

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17
Q

What is leukemia?

A

It is neoplastic disease of blood-forming tissue in which large amount of WBCs populate the bone marrow and peripheral blood.

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18
Q

What are lymphomas?

A

Neoplasms of lymphocytes that form discrete mass tissues.

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19
Q

What are tumors comprised of?

A

Genetically identical cells and a clonal nature.

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20
Q

What is cancer?

A

Uncontrolled cell division

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21
Q

What is the mechanism of cancer?

A

Alterations in cellular DNA accumulate over time in succeeding generations of daughter cells. These daughter cells with several mutations replace the cells previously comprising the tumor.

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22
Q

How is clonal expansion is normal cells?

A

They divide, arrest, differentiate, or expire in response to intracellular and extracellular signals controlling the cell division cycle.

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23
Q

How do normal cells know to divide and arrest division or expire?

A

Through intracellular and extracellular signals they receive that control their division.

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24
Q

How do cancerous cells come about?

A

From non-lethal mutations in DNA that disrupt the signaling process such that proliferation and survival are favored more than arrestation and expiration.

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25
Q

The transformation of a normal cell to a malignant cancer requires he acquisition of several capacities such as being

A
  • Independent of external growth signals
  • Insensitive to external anti-growth signals
  • Able to avoid apoptosis (self-directed cell death)
  • Capable of indefinite replication/proliferation
  • Capable of sustained angiogenesis
  • Capable of tissue invasion and metastasis
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26
Q

What is sustained angiogenesis?

A

Constant oxygen and energy giving or creating access to the vascular system.

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27
Q

Cancer-causing mutations occur in two many types of genes? Name them.

A

Two. Oncogenes and tumor suppressor genes.

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28
Q

What is the function of protocol-oncogenes?

A

Promote cell division and support cell survival.

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29
Q

What are examples of photo-oncogenes?

A
  • Cell membrane receptors for growth factors, hormones

- Genes that inhibit apoptosis

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30
Q

What genes are typically in control of cell division and do not allow cell overgrowth?

A

Photo-oncogenes

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31
Q

Mutations occurring in photo-oncogenes cause them to become cancer promoting genes called

A

Oncogenes.

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32
Q

What are oncogenes

A

Mutated proto-oncogenes that promote cancer.

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33
Q

What is the function of tumor suppressor genes (TSG)?

A

Slow down or stop cell division.

Regulation of port-oncogenes.

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34
Q

TSF includes

A

Factors that control transcription and translation of genes required for cell division.
Proteins that repair DNA damage and promote apoptosis.

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35
Q

What are checkpoint proteins?

A

Proteins that suspend cell division when a problem is encountered during DNA synthesis or division.

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36
Q

What is the result seen from mutation in TSF?

A

Uncontrolled proliferation due to loss of negative regulation.

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37
Q

The most common single genetic change seen in cancer is loss or mutation of the transcription factor

A

p53

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38
Q

Loss or mutation in transcription factor p53 results in

A

Lack of regulation from TSG which normally halt cell cycling and induce cell apoptosis

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39
Q

Loss of what transcription factor leads to replication of damaged DNA and cells not undergoing apoptosis when necessary.

A

p53

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40
Q

Transcription factor p53 is encoded by what gene?

A

TP53

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41
Q

Gain of function mutation typically occurs in

A

Oncogenes

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42
Q

What is gain of function?

A

Amplification of translocation of DNA regions containing the oncogene or activating mutations, causing increased, faulty activity of the proteins.

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43
Q

Loss of function typically occurs in

A

TSG

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44
Q

What is loss of function?

A

Inactivation of suppressor proteins either by deletion, translocation or other mutation.

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45
Q

How many mutations are required for onset of clinically observable tumors?

A

3 to 8

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46
Q

List the 4 types of mutations in cancer

A

Gene amplification
Gene deletion
Gene rearrangment
Point mutations

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47
Q

What is gene amplification?

A

Extra copies of a single gene are replicated or transcribed.

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48
Q

What is gene deletion?

A

This is loss of a sequence of nucleotides within an exon

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49
Q

What is gene rearrangement?

A

Normal or massive production of clonal populations in Ig-producing cells.

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50
Q

What is point mutation?

A

Replacement of a single nucleotide that can alter protein function.

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51
Q

What does the colorectal carcinoma model of cancer development suggest?

A

That tumors arise from mutational activation of protocol-oncogenes and mutational deactivation of TSG.

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52
Q

Which proto-oncogene on chromosome 12p at codon 12 acquires a point mutation of GGT to GAT to become an oncogene?

A

K-ras

53
Q

K-ras is a proto-oncogene on what chromosome and what codon?

A

Chromosome 12p, codon 12.

54
Q

What point mutation does photo-concogene K-ras acquire that making it an oncogene?

A

GGT to GAT

55
Q

What genes are G-proteins that are important in intracellular signaling pathways of growth factors?

A

Ras genes

56
Q

Is mutated Was permanently or impermanently active?

A

Permanent

57
Q

What TSG on chromosome 5q21 acquires several frameshifts or nonsense mutations leading to its inactivation and production of shortened protein product?

A

APC

58
Q

Alteration of at least how many genes is required for development of malignancy is colorectal cancer?

A

4 or 5

59
Q

What two alterations are seen in colorectal cancer?

A

DCC TSG on chromosome 18q is deleted

P53 TSG on chromosome 17p is mutated.

60
Q

Breast and ovarian cancers come from

A

Inherited germline mutations in BRCA1 (17q21) and BRCA2 (13q21) genes caused by point mutations or frameshift mutations.
Human epidermal growth factor receptor HER-2/neu mutation

61
Q

How does HER-2/neu gene mutations result in breast cancer?

A

Via overproduction of receptor tyrosine kinase protein HER-2.

62
Q

HER-2/neu breast cancers are detected by

A

Immunohistochemistry or FISH

63
Q

What are the goals of using molecular techniques in cancer?

A
  • Provide early diagnosis prior to clinical appearances so patient is monitored closely or have presymptomatic surgery
  • Measure tumor aggressiveness so likelihood of recurrence is understood
  • Assess residual disease after treatment
64
Q

What can FISH detect?

A

Changes in increased copy numbers of oncogenes such as HER-2neu

65
Q

What are conformers?

A

Secondary structures DNA forms through intramolecular bonds when denatured into single strands.

66
Q

Shape of conformers is ermined by

A

The primary nucleotide sequence

67
Q

What can change a conformer’s shape?

A

Polymorphism or mutation

68
Q

SSCP can be resolved by

A

Gel or capillary electrophoresis

69
Q

k-ras mutations can be detected by

A

SSCP or direct sequencing

70
Q

P53 mutations can be detected by

A

SSCP
Direct sequencing
Immunohistochemistry

71
Q

BRCA mutations can be detected using

A

Direct sequencing

Sequence specific PCR

72
Q

Ig genes consists of

A

Many axons over long distances

73
Q

What type of genes are said to consist of a supergene family?

A

Immunoglobulin genes

74
Q

What must be appropriately brought together for transcription to take place in Ig genes?

A

Variable, joining and diverse regions

75
Q

Ig gene transcription only occurs in

A

One of the homologous chromosomes

76
Q

What are the steps in VDJ recombination (Ig gene recombination)

A 
Germline configuration
DJ recombination
V and DJ recombination
Transcription, slicing
Translation, assembly
77
Q

How many chains are seen in T cell receptors? Name them.

A

Two. ab and yd subunits.

78
Q

What does T cell receptor rearrangement have in common with Ig genes

A

The variable domains of these subunits (ab and yd) go through VDJ gene rearrangement

79
Q

What does it mean that normal populations of lymphocytes are polyclonal?

A

They are all very different.

80
Q

Each lymphocyte undergoes VDJ rearrangement for Ig and TCRs independently. T or F?

A

True

81
Q

When lymphoma and leukemia develop, the malignant cell population is monoclonal meaning

A

They are all derived from one gene rearrangement.

82
Q

What is clonality?

A

It is the red flag (indication) of hematologic malignancy,

83
Q

What are the targets for clonality detection?

A

Light and heavy chains of Its

84
Q

Clonality is detected using

A

Hybridization techniques such as southern blot

PCR

85
Q

Clonality comes as a result of

A

Cancer

86
Q

Ig and TCR gene rearrangement are normal events used for

A

producing immune system diversity

87
Q

What is exploited by molecular techniques in detecting B&T cell lymphomas/leukemias?

A

Lack of diversity (clonality) that is characteristic of cancer.

88
Q

What does malignancy translocation involve?

A

Relocation of proto-oncogene from one chromosome to another.

89
Q

Translocation causes

A

Cell growth regulators or cell cycle regulators to be either rover expressed or non-functional.

90
Q

Chromosomal mutation in Burkitt’s lymphoma

A

t(8;14) t(2;8) t(8;22)

91
Q

Chromosomal mutation in Mantle cell lymphoma

A

t(11;14)

92
Q

CM in Follicular lymphoma

A

t(14;18) t(8;14)

93
Q

CM in acute myeloid leukemia

A

t(8;21) t(6;9)

94
Q

CM in acute lymphoid leukemia

A

t(9;22) t(12;21) t(8;14)

95
Q

CM in chronic myeloid leukemia

A

t(9;22) t(11;22)

96
Q

CM in chronic lymphoid leukemia

A

t(14;19) 14q+ +12

97
Q

What is Hodgkin’s lymphoma?

A

B cell malignancy that causes lymph node swelling and fatigue.

98
Q

What is the classic characteristic seen in Hodgkin’s disease?

A

Clonal B cells called Reed Sternberg cells

99
Q

Which lymphoma has the best prognosis?

A

Hodgkin’s lymphoma

100
Q

All other lymphomas (non-Hodgkin’s) involve malignancies of

A

B and T cells

101
Q

What is lymphoblastic lymphoma?

A

Predominantly of T cell origin that is sometimes hard to distinguish from leukemia, -30% of childhood NHL

102
Q

What is small non-cleaved cell lymphoma?

A

Burkitt’s and non-burkett’s, B cell origin, 40-50% of childhood NHL

103
Q

What is large cell lymphoma?

A

Heterogenous group B and T lineage, 20-25% of childhood NHL

104
Q

Childhood NHL are divided into

A

Lymphoblastic (30%)
Small non-cleaved cell lymphomas (40-50%)
Large cell lymphoma (20-25%)

105
Q

What is Burkitt’s lymphoma?

A

t(8;14) chromosomal mutation in which there’s breakage of chromosome 8 with segments juxtaposed unto chromosome 14 near Ig heavy chain gene locus.

106
Q

What gene is normally on chromosome 8?

A

c-myc

107
Q

What is the function of c-myc?

A

Codes for a transcription factor that regulates gene expression related to cell division.

108
Q

How does translocation cause BL?

A

Translocation moves c-myc from normal promoter region resulting in over expression of c-myc and subsequent B cell malignancy.

109
Q

What is mantle cell lymphoma?

A

t(11;14) chromosomal mutation in which there is translocation of cyclin D1 (BCL-1 or PRAD-1) gene on chromosome 11 to 14.

110
Q

t(11;14) CM causes

A

over expression of cyclin D1 which allows passage from G1 to S phase of cell cycle.

111
Q

What is follicular lymphoma?

A

t(14;18) chromosomal mutation in which there is translocation of BCL-2 gene on chromosome 14 to 18

112
Q

What is the function of BCL-2?

A

Preventing apoptosis of long-lived B cells

113
Q

When translocated, BCL-2

A

Allows survival of cells that should normally die

114
Q

What are leukemias?

A

Malignancies of B and T cells in the bone marrow that spread to peripheral blood.

115
Q

What are the 4 major types of leukemias?

A

Acute myeloid leukemia (AML)
Acute lymphatic leukemia (ALL)
Chronic myeloid leukemia (CML)
Chronic lymphatic leukemia (CLL)

116
Q

What is CML?

A

t(9;22) chromosomal mutation in which there is translocation of part of the c-abl gene on chromosome 9 to the BCR gene on chromosome 22.

117
Q

Translocation of part of the c-abl gene of chromosome 9 to back gene on chromosome 22 results in

A

Chimeric/fusion gene with head of RBC gene on tail of c-abl gene

118
Q

BCR and c-abl genes are both

A

Tyrosine kinase enzymes that phosphorylate other proteins.

119
Q

What is the effect of improper kinase activity?

A

Normal growth signal transduction is altered.

120
Q

Philadelphia chromosome is associated with what leukemia?

A

Chronic myeloid leukemia

121
Q

What is Philadelphia chromosome?

A

Shortened chromosome 22 due to translocation.

122
Q

What are myelomas?

A

Malignancy of plasma cells or mature B cells (Ab secreting cells)

123
Q

Malignancy of antibody-secreting cells is called

A

Myeloma

124
Q

How is clonality detected?

A

PCR

Southern blot

125
Q

How are translocations detected?

A 
FISH
RT PCR (quantity number or percentage of cells with translocation)
126
Q

For leukemias such as AML and CML, it is important to assay for

A

Minimal residual disease

127
Q

What is minimal residual disease?

A

Small number of malignant lymphocytes that may remain during treatment.

128
Q

What is minimal residual disease assay used for?

A

Monitor effectiveness of treatment or if patient is coming out of remission.

129
Q

MRD is typically assayed using what method?

A

Reverse transcriptase RT PCR

Molecular Diagnosis (11 decks)

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