XL CCND3/IGH DF consists of an orange-labeled probe hybridizing to the CCND3 gene and flanking regions at 6p21.1 and a green-labeled probe hybridizing to the IGH gene region at 14q32.3.

Probe maps are created in accordance with the intended purpose of the product. Solid colored bars do not necessarily indicate that the probe fully covers the indicated genomic region. Therefore, caution is advised when interpreting results generated through off-label use. Probe map details based on UCSC Genome Browser GRCh37/hg19. Map components not to scale. Further information is available on request.

The most frequent primary abnormalities in multiple myeloma (MM) are trisomies of odd-numbered chromosomes or translocations involving the immunoglobulin heavy chain (IGH) gene locus. The most common MM-associated IGH translocations are t(11;14), t(4;14), t(6;14), t(14;16) and t(14;20) in the order of their occurrence. The consequence of these rearrangements is the dysregulation of genes juxtaposed to transcriptional enhancer elements in the IGH gene locus. Prognosis and risk stratification strongly depend on the detection and interpretation of cytogenetic primary abnormalities. Translocations t(14;16) and t(14;20) are considered as high risk, t(4;14) as intermediate risk and t(6;14) and t(11;14) as standard risk cytogenetic aberrations in patients with MM based on FISH testing. Secondary aberrations are also influencing the outcome.
Cyclins of the D-family are essential for the transition from G1 to S phase during the cell cycle progression. t(6;14)(p21;q32) moves the cyclin D3 (CCND3) gene in proximity to 3’ IGH enhancer sequences and is associated with CCND3 overexpression. The chromosomal translocation has been reported as a rare but recurrent event not only in myeloma but also in other B-cell malignancies such as diffuse large B-cell lymphoma.

Clinical Applications

• Multiple Myeloma and Plasma Cell Neoplasms (MM)

XL CCND3/IGH DF is hybridized to bone marrow cells, one aberrant cell is shown. A translocation t(6;14)(p21;q32) has occurred generating a signal pattern of two colocalization/fusion signals, one green and one orange signal.

• Shaughnessy et al (2001) Blood 98:217-223
• Sonoki et al (2001) Blood 98:2837-2844
• Rajan and Rajkumar (2015) Blood Cancer J 5:e365