Gene fusions and amplification involving the MYC gene at 8q24 are common in Burkitt lymphoma, and can occur in other B-cell non-Hodgkin lymphomas, for example, diffuse large B-cell lymphoma (DLBCL). These changes have diagnostic and prognostic implications.
The most common fusion partner for MYC is IGH, although other fusion partners are possible (for example, IGK and IGL). This test can also detect amplification of MYC.
In association with BCL2 and BLC6 gene fusions (see Multiple hit lymphoma FISH), this gene fusion can indicate prognosis in B-cell lymphoma with features intermediate between DLBCL and Burkitt lymphoma. Presence of a MYC gene fusion can be useful in diagnosing Burkitt lymphoma, although testing is most often done with a specific MYC/IGH probe (see MYC/IGH FISH).
MYC amplification may be seen in myeloid or lymphoid neoplasms, and indicates advanced, drug-resistant disease.
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.
Fluorescent in situ hybridisation (FISH) analysis, using a break-apart probe to identify fusion of MYC with a number of different partner genes. If performed on FFPE tissue, some cells in the section may be sliced by the process, and only contain some of the regions of interest. Sections may contain bony, fatty or necrotic material, which may interfere with processing and/or analysis. Dense tissue also makes identification of individual cells difficult. The accuracy of the results is dependent on the correct identification of tumour on the sections provided, and the assumption that positive results will be identified by a large proportion of cells within the tumour having a rearrangement.
Requesting the test
This test is usually requested by a haematologist or oncologist.
0.5 mL bone marrow in transport media, or formalin-fixed paraffin embedded tissue (FFPE).
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.
If requesting on FFPE, please label each slide with patient and block identifiers plus number them sequentially 1-15. Stain slides 1 and 15 with H&E and leave slides 2-14 unstained.
Up to 4 weeks.
If more information is required, the requesting clinician can call our laboratory on (07) 3377 8573.
An MBS rebate is available for diffuse large B-cell lymphoma/high-grade B-cell lymphomas as part of the Multiple hit lymphoma FISH panel (item number 73364), or Burkitt lymphoma (item number 73365), if criteria are met.