The MAFB (MAF bZIP transcription factor B) gene is located at 20q12 and IGH (immunoglobulin heavy locus) at 14q32.3 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)(q32.3;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)(q32.3;q12) is assumed to be the same as the t(14;16)(q32.3;q23)3 .
Probe Specification MAFB, 20q12, Red IGH, 14q32.3, Green
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