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CBFB/MYH11 FISH

Also known as: inv(16) FISH, AML

Test category:

Oncology - Leukaemia

Use of test

Purpose:

Chromosomal rearrangements affecting Chromosome 16 can result in fusion of the CBFB and MYH11 genes. The CBFB-MYH11 gene fusion defines the AML subtype previously known as acute myelomonocytic leukaemia (AMML), and is often associated with abnormality of or increase in eosinophils.

This gene fusion carries prognostic implications.

Utility:

Fusion of CBFB and MYH11 is associated with favourable 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 CBFB-MYH11 gene fusion. The breakpoints involved in these fusions can be variable, and in some cases certain variants will not be detected by the probe.

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:

5 business days (1 business day if urgent).

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.