Our Tests
Purpose
Gene fusions involving the CCND1 at 11q13 and the IGH gene at 14q32 are common in Mantle cell lymphoma. They can also occur in Multiple Myeloma. Such gene fusions have diagnostic and prognostic implications.
Clinical Utility
Presence of an IGH-CCND1 gene fusion provides support for a diagnosis of Mantle cell lymphoma. This rearrangement is not specific for Mantle cell lymphoma; it can be seen in multiple myeloma and (rarely) in other lymphoid malignancies.
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.
Test Method
Fluorescent in situ hybridisation (FISH) analysis, using probes to identify fusion of IGH with CCND1, due to a t(11;14)(q13;q32) translocation.
Test Ordering
This test is usually requested by a haematologist or oncologist.
0.5 mL bone marrow in transport media or 10 mL blood in lithium heparin if clinically appropriate.
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 also recommend that the patient or another adult check the labelling of request forms and sample tubes.