IGH/FGFR3 Translocation, Dual Fusion LPH030 - Detail

The t(4;14) (p16.3;q32.3) translocation is found in approximately 10% of myeloma patients and results in the deregulation of at least two genes. These are MMSET (Multiple Myeloma SET domain containing protein also known as WHSC1) and FGFR3 (fibroblast growth factor receptor 3) with the formation of a fusion product between MMSET and the immunoglobulin heavy chain (IGH) locus and overexpression of FGFR3. 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. FGFR3 lies at least 50kb from the breakpoints after translocation to chromosome 14 and . Other studies state that the breakpoints on chromosome 4 lie in a 113kb region between FGFR3 and MMSET exon 5². The breakpoint on chromosome 14 is almost exclusively in or near the switch region of the IGH locus.

Reference:/Bibliographie/Literatur/Bibliografia

1. Sibley K et al (2002) Br J Haematol 118: 514-520
2. Kyats JJ et al (2003) Blood 101: 1520-1529