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IGH/MAFB Translocation, Dual Fusion

Applications
haematology
Catalogue Numbers
LPH 044-S (5 tests)
LPH 044 (10 tests)

Probe Specification

  • MAFB, 20q12, Red
  • IGH, 14q32.33, Green

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).

Probe Information

The t(14;20) translocation is one of seven recurrent IGH translocations that are referred to as primary oncogenic events in around 73% of Multiple Myeloma (MM) cases1.These translocations result in a transcription product that dysregulates further genes, such as the cyclin family of cell cycle control genes, which then disrupts normal cell division. In the case of the t(14;20) translocation, 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 gene2. The resultant fusion and the up-regulated transcription product has been shown to cause dysregulation of Cyclin D2 in around 7% of tumours3. Of the seven translocation partners of IGH in multiple myeloma (including CCND1, CCND2, CCND3, MAF, MAFA and FGFR3/MMSET), MAFB has a prevalence of around 2%4.

Involvement of any of the three MAF genes provides equally poor prognoses and a similar phenotype for patients5, but the MAFB translocation shows a different prevalence in multiple myeloma patients (2%) compared to Monoclonal Gammopathy of Undetermined Significance (MGUS) and Smoldering Multiple Myeloma (SMM) cases (7%)5.

Not only do Cytocell offer an extensive range of high-quality FISH probes, the customer support is also excellent — providing fast access to all the probes I need. The probes are highly consistent with bright signals allowing easy scoring of results. Dr Eric Crawford, Senior Director, Genetics Associates Inc.

References

1. Avet-Loiseau et al., Blood 2002;99(6):2185-912.

2. Boersma-Vreugdenhil et al., Br J Haematol 2004;126:355-633.

3. Bergsagel et al., Blood 2005;106(1):296-3034.

4. Zhan et al., Blood 2007;109(4):1692-7005.

5. Chng et al., Best Pract Res Clin Haematol 2007;20:571-96

Microscope Images

IGH MAFB Translocation Dual Fusion magnified
Area of Interest*
MM

Disclaimer

This product is intended to be used on Carnoy’s solution (3:1 methanol/acetic acid) fixed haematological samples.

*Disease information supported by the literature and is not a reflection of the intended purpose of this product.