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IGH/FGFR3 Plus Translocation, Dual Fusion

Applications
haematology
Catalogue Numbers
LPH 074 (10 tests)
LPH 074-S (5 tests)

The t(4;14)(p16.3;q32.3) translocation is found in 15-20% of multiple myeloma patients and results in the known dysregulation of two genes, one on each derivative chromosome: MMSET (Multiple Myeloma SET domain containing protein, also known as WHSC1) on the der(4) and FGFR3 (fibroblast growth factor receptor 3) on the der(14)1.

The majority of the breakpoints on chromosome 4 occur within the MMSET locus resulting in a fusion gene where the 5' exons of MMSET are replaced with the VDJ region of the heavy chain locus. This results in MMSET being brought under the influence of the enhancer Eμ on the der(4)1, FGFR3 lies at least 50kb from the breakpoints after translocation to chromosome 14 and FGFR3 expression is upregulated via proximity to the strong enhancer elements (particularly the Ea enhancer) in the immunoglobulin heavy chain2. Other studies state that the breakpoints on chromosome 4 lie in a 113kb region between FGFR3 and MMSET exon 53.

The breakpoint on chromosome 14 is almost exclusively in or near the switch region of the IGH locus. This t(4;14) translocation is often cytogenetically cryptic and was poorly described before the advent of FISH techniques.

References

1. Viguié F t(4;14)(p16;q32). Atlas Genet Cytogenet Oncol Haematol. May 2005

2. Sibley K et al., Oncogene. 2001 Feb 8;20(6):686-91

3. Keats JJ et al., Blood 2003;101(4):1520-9

Microscope Images

IGH FGFR3 Plus 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.