Molecular testing of solid tumours has become increasingly important as actionable, therapeutic genetic variants are identified for a greater range of malignancies

The use of genetic testing to identify specific mutations within solid tumours is now commonplace in many oncological disciplines, with lung, melanoma, and colorectal cancer leading the way. Therapeutic agents (such as tyrosine kinase inhibitors) have been developed which act specifically in the presence of targeted actionable genetic variants. Genetic test results may enable patients to access appropriate treatments under the pharmaceutical benefit scheme.


This approach, known as precision medicine enables uniquely tailoring medications to optimise patient outcomes.

Specific activating mutations in KRAS and NRAS genes indicate there is likely to be reduced response to EGFR inhibitor therapy. Lack of activating mutations defines eligibility for accessing anti-EGFR therapies under the Pharmaceutical Benefits Scheme (PBS).

Test Name Colorectal cancer gene panel
Clinical IndicationTesting of metastatic colorectal cancer tumour tissue to determine the eligibility for access to cetuximab or panitumumab under the Pharmaceutical Benefits Scheme (PBS).
Gene(s)KRAS, NRAS, BRAF, PIK3CA, EGFR
MethodMassARRAY
Turn around time1 week from receipt of sample
Medicare Eligibility73338
Criteria apply – dependant on tumour type and stage
Sample TypeFFPE Tumour Tissue
Special Instructions6 x 5 micron slides plus 1 x H&E stained slide required

Some mutations that occur in BRAF during melanoma progression are actionable targets for therapeutic agents. Testing for the BRAF V600 somatic mutations (V600E and V600K) in metastatic melanoma tumour tissue may assist in determining which patients will likely benefit from anti-BRAF therapeutics and, if a V600 mutation is present, whether they will be eligible for accessing the anti-BRAF agent Dabrafenib under the Pharmaceutical Benefits Scheme (PBS).

Test NameBRAF V600 Mutations
Clinical IndicationTesting of malignant melanoma tissue to determine eligibility for access to dabrafenib or vemurafenib under the PBS
Gene(s)BRAF
MethodPCR Genotyping
Turn around time1 week from receipt of slides
Medicare Eligibility73336 – Criteria apply
Sample TypeFFPE Tumour Tissue
Special Instructions6 x 5 micron slides plus 1 x H&E stained slide required

Mutations in the Epidermal Growth Factor Receptor (EGFR) gene can influence therapy choice in patients with non-small cell lung cancer (NSCLC) as some mutations in the EGFR gene confer sensitivity to Tyrosine Kinase Inhibitors (TKIs), whereas others may confer resistance. The mutation status of EGFR can be a useful marker by which patients are selected for EGFR-targeted therapy. Testing for EGFR mutations in exons 18, 19, 20 and 21 in NCSLC tumour tissue may assist in determining which patients will benefit from TKI inhibitor treatments and determine their eligibility to access treatment under the PBS.

Test NameEGFR
Clinical IndicationTesting of Non-Small Lung Cancer tissue to determine eligibility for access to erlotinib, gefitinib, afatinib or osimertinib under the PBS.
Gene(s)EGFR (Epidermal Growth Factor Receptor)
MethodReal Time PCR genotyping
Turn around time1 week from receipt of slides
Medicare Eligibility73337 or 73351– criteria apply
Sample TypeFFPE Tumour Tissue
Special Instructions6 x 5 micron slides plus 1 x H&E stained slide required
A broad range of FISH is available for the detection of non-random rearrangements and whole or partial chromosome aneuploidy that are associated with neoplasms including non-small cell lung cancer, sarcoma and lymphoma. FISH is a targeted investigation and has the benefit of screening large numbers of cells to detect clonal abnormalities.
Test Name FFPE Solid Tumour FISH
Clinical Indication For diagnosis, classification and prognosis in solid tumour oncology.
Gene(s) ALK, ROS1, IGH, MYC, BCL2, BCL6, MDM2, others as listed below
Method FISH
Turn around time 7 – 14 days
Medicare Eligibility Lung (NSCLC): 73337; Colorectal Cancer (CRC): 73388; Metastatic Melanoma: 73336. Criteria applies to all.
Sample Type FFPE Tumour Tissue
Special Instructions 5 x 5 micron slides plus H&E stained slide required
 
Syndrome/Indication Gene Locus Chromosome Location
Non-small cell lung cancer ALK 2p23
ROS1 6q22.1
Glioma GLI 12q13
Liposarcoma CHOP 12q13
FUS 16p11
Alveolar rhabdomyosarcoma FKHR 13q14
FOXO1 13q14
Synovial sarcoma SYT 18q11.2
Ewings sarcoma EWSR1 22q12
Neoplasms MDM2 amplification 12q14.3
Follicular lymphoma IGH/BCL2 t(14;18)(q32;21)
Mantle cell lymphoma IGH/CCND1-XT t(11;14)(q13;q32)
Non-Hodgkin lymphomas IGH/MALT1 t(14;18)(q32;q21)
Burkitt’s lymphoma IGH/MYC t(8;14)(q23;q32)

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