The IGH/MAFB product consists of probes, labelled in green, covering the Constant and Variable segments of the IGH gene, and MAFB probes (195kb, 161kb and 401kb), labelled in red. The MAFB probes are located on either side of the breakpoint region (between MAFB and PPP1R16B).
The MAFB (MAF bZIP transcription factor B) gene is located at 20q12 and IGH (immunoglobulin heavy locus) at 14q32.33.
Approximately 50-60% of multiple myeloma (MM) cases are associated with translocations involving IGH and one of several partners including CCND1, NSD2 (MMSET) and FGFR3, CCND3, MAF or MAFB1.
The t(14;20)(14q32;q12) translocation is a recurrent translocation seen in around 2% of MMs2,3.
The reciprocal rearrangement brings a truncated form of the IGH μ-enhancer (Eμ, located between the joining (J) segments and the constant region of the IGH gene) in close contact with the MAFB gene4. The resultant fusion and the up-regulated transcription product has been shown to cause dysregulation of cyclin D21.
The prognostic outcome of t(14;20)(14q32;q12) is assumed to be the same as the t(14;16)(q32;q23)3.
The quality of the products we have received from CytoCell have been excellent. The FISH probes they provide to us give intense, strong signals and are a pleasure to count. What has really stood out however has been the level of support and assistance provided by CytoCell’s application specialists. The team worked very closely alongside our own during the adoption of this product and spent many hours with us perfecting the technique, going above and beyond what I would expect during the transition period. Source BioScience absolutely demand high quality products and service to be able to deliver our results with confidence, and that is what we have received from CytoCell.
Laboratory Operations Manager, Source BioScience, UK