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Mutation detection in solid tumours - Coggle Diagram
Mutation detection in solid tumours
Common cancers world wide & in Australia
Cancer = malignant tumour
Uncontrolled cell devision
Invade other tissues
Invasion
Metastasis
Cause
Acquired
Inherited mutions to DNA
Most Common cancers
Breast
Lung
Colorectum
Prostate
Liver
Different types of mutations & their consequences
Germline Mutation
DNA or chromosomal alteration in a
"germ cell"
(i.e. sperm or egg cell)
Heritable
Every
cell
Somatic Mutation
DNA or chromosomal alteration in a "somatic" cell (i.e. any cell
except
for a sperm or egg cell)
Not
heritable
A (cancer-associated) somatic mutation can be detected in cancer cells but
NOT
in other cells of the body
Point mutations, Deletions, Insertions, Chromosomal rearrangements
Reasons why mutation testing for solid tumours is performed
Purpose
Diagnosis
Prognosis
Treatment sensitivity/resistance
Disease monitoring (treatment response, relapse)
Purposes of mutation testing in solid tumours & how mutation testing is applied to
Melanomas
Targeted treatment
BRAF Inhibitors
~40 - 50% cutaneous melanomas carry BRAFV600E mutation --> poor prognosis
Vemurafenib, Dabrafenib
Inhibit BRAFV600E signalling
Often administered in combination with MEK inhibitor (e.g. trametinib)
Disease Monitoring/Treatment Resistance
Detects tumour-specific mutation in circulation (blood)
Lung cancers
80 - 90% - tobacco smoking
Not a single disease: Lung tumours subclassified into small cell lung cancers & non-small cell cancers
(NSCLC)
Targeted treatment
EGFR Inhibitors
Somatic EGFR mutations
Tyrosine kinase inhibitors (TKIs)
How (molecular biology) tests are developed & accredited for use in diagnostic anatomical pathology
How (molecular biology) test results are reported
Specimen
Proportion of tumour
What was tested (which mutation(s)?)
Sensitivity of test
Mutation detected/not detected
Interpretation of results
Allele frequency of mutation (if detected)
Types & limitations of specimens commonly encountered in anatomical pathology
Specimens
Types
Fluid
Final needle aspirate (FNA)
Core biopsy
Tissue wedge/surgical specimen
Method
Fresh
No fixative
May be in fluid
Fixative (usually 4% buffered formalin)
Crosslink proteins