Final - molecular testing in Dx of cancer Flashcards

1
Q

name three diagnostic methods

A

1) real time PCR
2) DNA sequencing
3) Array

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2
Q

in diagnostic mutation analysis, what is the indicator for a clonal population of B or T cells - PCR technique or capillary-like phoresis

A
  • PCR - a solid band, vs a smear

- phoresis - one peak vs many or curves

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3
Q

what is used to detect HPV and viral pathogens?

A
  • Cobas 4800 system for HPV high volume - nucleic acid isolation
  • PCR for head/neck cancers
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4
Q

3 examples of quantitative testing

A

1) minimal residual disease/tumor burden
2) gene copy number
3) gene expression profiling

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5
Q

what is used for minimal residual disease/tumor burden testing and what is it used for?

A

CML - initial diagnosis and monitoring therapy?

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6
Q

what is specifically monitored in CML?

A
  • PB values and spleen size
  • reduction of Ph+ cells in blood or marrow
  • reduction in cells with chromosomal translocation
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7
Q

explain the idea behind personalized medicine

A

use pharmacogenetic testing to get the right drug early

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8
Q

what was the earliest type of targeted therapy? Examples

A
  • hormonal therapy
  • tamoxifen - overexpressed estrogen receptors
  • herceptin - when HER-2 gene is amplified
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9
Q

what is EGFR and why is it bad?

A
  • pathogenic cell surface receptor in adenocarcinoma
  • growth factor binds to it and initiates a cascade that causes the transcription of more growth factors, some of what promote angiogenesis
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10
Q

what drugs target EGFR?

A
  • monoclonal antibodies – Cetuximab, Panitumumab

- tyrosine kinase inhibitors – Geftinib, Erlotinib

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11
Q

what is used to measure the content of EGFR mutations?

A

capillary electrophoresis

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12
Q

what are KRAS mutations?

A
  • in 30-50% of all colorectal cancers
  • codons 12 and 13, possibly 61
  • missense mutations (change in amino acid)
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13
Q

how is a KRAS mutation detected?

A
  • high density microarray

- ion torrent technology

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14
Q

ER

A

tamoxifen, aromatase inhibitors

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15
Q

HER2

A

trastuzumab, lapatinib, neratinib, pertuzumab

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16
Q

BCR-ABL

A

imatinib, dasatinib, nilotinib

17
Q

EGFR

A

erlotinib, gefitinib, afatinib, cetuximab

18
Q

PML-RARa

A

all trans-retinoic acid

19
Q

BRAF kinase

A

vemurafenib

20
Q

kit kinase

A

imatinib

21
Q

PDGFR kinase

A

imatinib

22
Q

ALK kinase

A

crizotinib