XL t(6;14) CCND3/IGH DF

Translocation/Dual Fusion Probe

Order Number
D-5109-100-OG
Package Size
100 µl
Labels
  
Chromosomes
614

Description

XL t(6;14) CCND3/IGH DF

XL t(6;14) CCND3/IGH DF is designed as a dual fusion probe. The orange labeled probe flanks the breakpoint at 6p21 (CCND3), the green labeled probe flanks the IGH breakpoint region at 14q32.

Clinical Details

The most frequent primary abnormalities in multiple myeloma (MM) are trisomies of odd-numbered chromosomes or translocations involving the immunglobulin 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 enhancers in the IGH locus. Prognosis and risk stratification strongly depends on the detection and interpretation of cytogenetic primary abnormalities. 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 of the G1 to the S-Phase during the cell cycle. t(6;14)(p21;q32) moves the cyclin D3 gene in proximity to 3´ IGH enhancer sequences and is associated with cyclin D3 overexpression. The chromosomal translocation has been reported as a rare and recurrent event not only in myeloma but also in other B-cell malignancies as diffuse large B-cell lymphoma.

Clinical Applications

  • Multiple Myeloma and Plasma Cell Neoplasms (MM)

Images

XL t(6;14) CCND3/IGH DF

XL t(6;14) IGH/CCND3 DF hybridized to lymphocytes. Two normal interphases are shown.

Expected Patterns

Expected Pattern 1

Normal Cell:
Two green (2G) and two orange (2O) signals.

Expected Pattern 2

Aberrant Cell (typical results):
One green (1G), one orange (1O), and two green-orange colocalization/fusion signals (2GO) resulting from a reciprocal translocation between the relevant loci.

Literature

  • 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

Downloads

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