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HEM Exam 3 > Cancer Cytogenetics - GO THROUGH END AGAIN > Flashcards

Cancer Cytogenetics - GO THROUGH END AGAIN Flashcards

1
Q

which techniques are used for both constitutional and cancer cytogenetics?

A
  • karyotype
  • FISH
  • chromosome microarray analysis (CMA)
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2
Q

CMA compared to karyotyping and fish

A
  • used less frequently to analyze cancer specimens
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3
Q

numerical abnormalities

A
  • chromosomal abnormalities that change the number of chromosomes
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4
Q

structural abnormalities

A
  • chromosomal abnormalities that change the structure of the chromosome
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5
Q

chromosome abnormalities cause disease by

A
  • altering concentration of particular gene products

- altering gene product

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6
Q

ways to alter concentration of particular gene products

A
  • duplication or amplification

- deletion or gene interruption

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7
Q

what kind of genes are typically duplicated or amplified in cancer

A
  • oncogenes
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8
Q

what kind of genes are typically deleted or disrupted in cancer?

A
  • tumor suppressor genes
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9
Q

how does cancer alter the gene product?

A
  • produces a few fusion gene with altered expression

- new fusion protein with altered function

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10
Q

CML accounts for what percent of leukemia

A

15-20%

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11
Q

CML occurs most frequently in what age group

A

40-50

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12
Q

importance of CML

A
  • first cancer to be associated with a specific recurrent chromosome abnormality
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13
Q

chromosome problems in CML

A
  • Ph chromosome secondary to a (9;22) translocation
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14
Q

the Philadelphia chromosome contains a

A
  • fusion gene composed of BCR serine/threonine on 22 and ABL1 tyrosine kinase on 9
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15
Q

the new fusion BCR/ABL1 tyrosine kinase produced by the fusion gene

A
  • permanently turned-on

- activates a number of signaling pathways

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16
Q

permanent activation of BCR/ABL1 fusion kinase leads to

A
  • malignant transformation

- by interfering with basic cellular processes

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17
Q

what process is used to identify that BCR/ABL1 fusion gene

A
  • FISH
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18
Q

what do you see on FISH in BCR/ABL1 fusion

A
  • yellow fusion signal on part of 9 and part of 22
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19
Q

BCR/ABL1 fusion tyrosine kinase as a target for what kind of drug therapy

A
  • tyrosine kinase inhibitors
20
Q

Imatinib (Gleevec) MOA

A
  • tyrosine kinase inhibitor
  • blocks ATP binding center of BCR/ABL1 kinase which blocks phosphorylation of various proteins that contribute to cell signaling and uncontrolled growth
21
Q

results of imatinib

A
  • induces long lasting remissions and is well tolerated
22
Q

complete cytogenetic response rate for newly diagnosed CML patients in chronic phase

A
  • 70-98%
23
Q

estimated 3 year survival rate for newly diagnosed CML in chronic phase

A
  • 94%
24
Q

what do we do for patients with early blast phase with first line TKI

A
  • bone marrow/stem cell transplantation

- only cure for CML

25
Q

chromosome abnormalities involved MLL has been implicated in what percent of acute leukemias

A
  • 10% of AML and ALL
26
Q

chromosome abnormalities in acute leukemia located where

A
  • 11q23.3

- KMT2A gene

27
Q

11q23.3 encodes

A
  • transcriptional regulatory factor essential for embryonic body plan formation and self-renewal of hematopoietic stem cells and immature progenitors
28
Q

what is the prognosis for 11q.23.3 abnormalities

A
  • generally associated with poor prognosis
29
Q

therapies for patients with MLL rearrangements

A
  • no targeted therapies
30
Q

recurrent MLL translocations associated with how many partner genes

A
  • 80
31
Q

mechanism whereby the multiple MLL fusion partners initiate cellular transformation

A
  • largely unknown
32
Q

fusion protein in MLL acts as what kind of mutation

A
  • dominant gain of function
33
Q

what do you see in G-banding karytope of MLL

A
  • short 4 chromosome

- long 11 chromosome

34
Q

what will microarray testing not detect

A
  • balanced rearrangements

- low level mosaicism

35
Q

balanced rearrangements

A
  • no gain or loss present to identify the rearrangements
36
Q

when do we see low level mosaicism/clonal evolution

A
  • minimal residue disease

- data from normal cells masks data from abnormal cells

37
Q

minor clones that provide information about disease progression - in microarray testing

A
  • may be difficult to detect
38
Q

what percentage of abnormalities detected in cells are not detected by CMA?

A
  • abnormalities present in less than 10-15% of cells
39
Q

what are some of the cytogenetic abnormalities missed by traditional cytogenetic testing that microarray can detect

A
  • cryptic rearrangements below level of G-band detection
  • those without FISH probes
  • copy number neutral loss of heterozygosity or acquired homozygosity
40
Q

what is a big problem that karyotyping has

A
  • resolution problems
41
Q

what has been identified as a major mechanism of tumor suppressor gene inactivation

A
  • copy number neutral loss of heterozygosity

- acquired homozygosity

42
Q

what technique is required for loss of heterozygosity

A
  • SNP microarray
43
Q

copy number neutral loss of heterozygosity or acquired homozygosity is a common finding in

A
  • all types of leukemia
44
Q

monitoring for cancer is typically done by what cytogenetic techniques

A
  • karyotyping

- FISH

45
Q

what condition has a very specific rearrangement

A
  • CML
46
Q

what condition has a rearrangement that involves multiple partners

A
  • MLL

HEM Exam 3 (20 decks)

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