Also known as: t(11;14) FISH, MCL FISH, CCND1 FISH, CCND2 FISH
Oncology - Lymphoma
Use of test
Gene fusions involving the IGH gene at 14q32 and CCND1 at 11q13 are seen most frequently in mantle cell lymphoma, but also in other B-cell disorders and multiple myeloma. The identification of such fusions can assist in diagnosis and classification of disease.
Gene fusions involving the IGH/IGK/IGL genes and CCND2 at 12p13 are seen most frequently in mantle cell lymphoma, and represent a variant of the rearrangements involving CCND1. The identification of such fusions can assist in diagnosis and classification of disease.
Presence of an IGH-CCND1 gene fusion, or a CCND2 gene fusion, can be useful in diagnosing mantle cell lymphoma.
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 probes to identify fusion of IGH with CCND1, due to a t(11;14)(q13;q32) translocation; FISH analysis of the CCND2 gene. The breakpoints involved in CCND2 fusions can be variable, and in some cases certain variants will not be detected by the probe. 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.
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 mantle cell lymphoma, if criteria are met (item number 73366).