Final - molecular testing in Dx of cancer

Question 1

name three diagnostic methods

Answer 1

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

Question 2

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

Answer 2

• PCR - a solid band, vs a smear

- phoresis - one peak vs many or curves

Question 3

what is used to detect HPV and viral pathogens?

Answer 3

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

Question 4

3 examples of quantitative testing

Answer 4

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

Question 5

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

Answer 5

CML - initial diagnosis and monitoring therapy?

Question 6

what is specifically monitored in CML?

Answer 6

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

Question 7

explain the idea behind personalized medicine

Answer 7

use pharmacogenetic testing to get the right drug early

Question 8

what was the earliest type of targeted therapy? Examples

Answer 8

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

Question 9

what is EGFR and why is it bad?

Answer 9

• 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

Question 10

what drugs target EGFR?

Answer 10

• monoclonal antibodies – Cetuximab, Panitumumab

- tyrosine kinase inhibitors – Geftinib, Erlotinib

Question 11

what is used to measure the content of EGFR mutations?

Answer 11

capillary electrophoresis

Question 12

what are KRAS mutations?

Answer 12

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

Question 13

how is a KRAS mutation detected?

Answer 13

• high density microarray

- ion torrent technology

Question 14

ER

Answer 14

tamoxifen, aromatase inhibitors

Question 15

HER2

Answer 15

trastuzumab, lapatinib, neratinib, pertuzumab

Question 16

BCR-ABL

Answer 16

imatinib, dasatinib, nilotinib

Question 17

EGFR

Answer 17

erlotinib, gefitinib, afatinib, cetuximab

Question 18

PML-RARa

Answer 18

all trans-retinoic acid

Question 19

BRAF kinase

Answer 19

vemurafenib

Question 20

kit kinase

Answer 20

imatinib

Question 21

PDGFR kinase

Answer 21

imatinib

Question 22

ALK kinase

Answer 22

crizotinib