RPN1/MECOM FISH
Also known as: inv(3) FISH, RPN1-EVI1 FISH
Test category:
Oncology - Leukaemia
Use of test
Purpose:
Rearrangements of Chromosome 3 which result in fusion of the RPN1 and EVI1 (also known as MECOM) genes are found in a small number of patients with acute myeloid leukaemia (AML), or with therapy-related AML or myelodysplastic syndrome (MDS). These patients often have thrombocytosis. This gene fusion defines a specific AML subtype, and it carries prognostic implications.
Utility:
Fusion of RPN1 and EVI1 is associated with poor prognosis.
Ethical considerations:
This is an assay for non-heritable mutations. It does not raise issues of ethics or consent that are different from most other investigations ordered in the routine care of a patient.
Methodology:
Fluorescent in situ hybridisation (FISH) analysis, using probes designed to detect RPN1-EVI1 gene fusion.
Requesting the test
Ordering:
This test is usually requested by a haematologist or oncologist.
Sample required:
0.5 mL bone marrow in transport media (or 10 mL blood in lithium heparin if blasts >10%).
To help ensure the quality of the test, a genetic test should be done with a dedicated sample whenever possible i.e. a sample collected specifically for that test rather than a sample that is used for multiple tests.
We recommend that the patient or another adult check the labelling of request forms and sample tubes.
Turnaround time:
2 business days.
Price:
This test has a Medicare rebate which, subject to the requirements of the Medicare descriptor being met, may cover all or part of the cost.
Rebate:
The Medicare details, including descriptor and schedule fee, are listed under MBS item 73314.