IGH, 14q32.33, Green
cMYC, 8q24.21, Red
The IGH/cMYC Plus product consists of probes, labelled in green, proximal to the Constant, and within the Variable segment of the IGH region, and cMYC probes, labelled in red. The cMYC probe mix contains a 220kb probe centromeric to the cMYC (MYC) gene and a second probe covering the 186kb region telomeric to the cMYC gene, including the D8S1644 marker.
The t(8;14)(q24;q32) translocation involving the IGH (immunoglobulin heavy locus) gene at 14q32.33 and the MYC (MYC proto-oncogene, bHLH transcription factor) oncogene at 8q24 is a recognised recurrent abnormality commonly seen in patients with B-cell malignancy.
IGH-MYC rearrangements are detected in up to 85% of cases of Burkitt lymphoma at diagnosis1. They are also seen in diffuse large B-cell lymphoma (DLBCL)2, multiple myeloma and plasmablastic lymphoma3,4.
In an IGH-MYC rearrangement the translocation breakpoints on chromosome 14 are clustered to a narrow region 5' to the intron enhancer of the immunoglobulin heavy chain, whereas the breakpoints on chromosome 8 can occur more than 340kb upstream of MYC, with no preferential site5. The translocation brings MYC into close proximity to the IGH enhancer and results in the up-regulation of MYC. Over-expression of the transcription factor stimulates gene amplification, resulting in uncontrolled cell proliferation6.
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