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FIP > 27. Introduction to molecular pathology > Flashcards

27. Introduction to molecular pathology Flashcards

1
Q

Molecular techniques

A

Tissue based:

  1. protein-based
    - immunohistochemistry
    - detects protein using antibodies with a label directed against the protein
  2. nucleic acid based
    - extract DNA/RNA from tissue
    - identify area of interest
    - use complementary nucleic acid probes for translocation
    - use sequencing for mutation
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2
Q

Technique for DNA or RNA

A

FISH (Flourescence In Situ Hybridisation)
-fluorescence probe
CISH (Chromogenic In Situ Hybridisation)
-chromogen probe

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3
Q

When is FISH/CISH used

A

good for translocations

  • Bcl2 in lymphoma
  • Her2 in breast carcinoma
  • c-Myc in Burkitt’s lymphoma
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4
Q

Genetic changes in follicular lymphoma

A

-caused by t(14; 18) which activates an anti-apoptotic gene Bcl2

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5
Q

What is sequencing of DNA/RNA for

A

process of determining the identity and order of nucleotides in a segment of DNA/RNA

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6
Q

How is mutation detected

A
  1. PCR

2. Sequencing

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7
Q

Gene abnormality is detected by

A
  • PCR
  • sequencing (automated next generation sequencing)
  • FISH
  • CISH
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8
Q

Protein expression is detected by

A

immunohistochemistry

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9
Q

Alteration of which 4 types of gene will lead to cancer

A
  1. oncogenes
  2. tumour suppressor gene
  3. mismatch repair gene
  4. anti-apoptotic gene
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10
Q

What are receptor tyrosine kinase

A

high affinity cell surface receptors for many polypeptide growth factors, cytokines and hormones

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11
Q

What are tyrosine kinase

A

kinase enzymes that specifically phosphorylate tyrosine on amino acid

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12
Q

Effects of phosphorylation of tyrosine on amino acid

A

activation of cell signalling and may cause a constant “on” activation

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13
Q

How does oncogene works

A
  • dominant
  • activation by mutation, translocation, amplification
  • mutation detected by:
    a) protein level - immunohistochemistry
    b) mRNA - RT-PCR
    c) DNA - PCR and sequencing
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14
Q

How does tumour suppressor gene works

A
  • recessive
  • inactivation due to either loss of both alleles or methylation
  • double hit required
  • found in all types of neoplasia
  • most common
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15
Q

Example of activated proto-oncogenes

A
  1. c-ras
    - 50% of cancers
  2. c-Myc
    - Burkitt’s lymphoma
  3. c-abl
    - chronic granulocytic leukemia
  4. c-ret
    - thyroid carcinoma
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16
Q

Example of tumour suppressor genes - inhibit cell prolfieration

A
  • retinoblastoma
  • adenomatous polyposis coli (APC)
  • p53
17
Q

What is Li-Fraumeni syndrome

A

rare autosomal dominant disorder which predisposes to a range of tumours including sarcoma, leukarmia, breast and brain tumours

  • affected family members have one mutant p53 gene in their germ line
  • an acquired abnormality of thier second p53 allele causes a loss of p53 activity and malignant change
18
Q

What does mismatch repair genes do

A

maintains integrity of genome

-proofread the DNA and correct it before cells can divide

19
Q

What is the result of abnormal function of mismatch repair genes

A

microsatellite instability

20
Q

How to test for abnormal function of mismatch repair genes

A
  1. immunohistochemistry
    - look for loss of normal expressed enzyme (lack of staining in section)
  2. mutation analysis
21
Q

What is Lynch syndrome

A
  • due to abnormality in DNA mismatch repair genes
  • MLH1, PMS2, MSH2, MSH6
  • leads to microsatellite instability
  • associated with colorectal carcinoma, endometrial carcinoma
22
Q

What is microsatellite instability

A
  • condition of genetic hypermutability that results from impaired DNA mismatch repair
  • many other cancers associated with mismatch repair:
    a) skin cancer
    b) brain tumour
23
Q

Newer technologies

A
  1. DNA, RNA, protein microarrays
  2. genomics
    - Gene Information Technology
    - e.g. gene arrays
  3. proteomics
  4. bioinformatics
24
Q

What are arrays

A

arrangement of DNA, RNA or a protein on a large platform to allow us to examine large number of cases in one study

25
Q

What is bioinformatics

A

method of analysing data on tissues from gene or protein microarray studies

FIP (24 decks)

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