XL t(14;16) IGH/MAF DF

Translocation/Dual Fusion Probe

Order Number
D-5112-100-OG
Package Size
100 µl (10 Tests)
Labels
  
Chromosomes
1416

Description

XL t(14;16) IGH/MAF DF

XL t(14;16) IGH/MAF DF consists of a green-labeled probe hybridizing to the IGH gene region at 14q32.3 and an orange-labeled probe hybridizing to the WWOX/MAF gene region at 16q23.

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.

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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 depend 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.
MAF overexpression caused by t(14;16)(q32;q23) increases gene expression levels of the downstream target genes cyclin D2 and integrin beta 7 and contributes to the pathogenesis of MM by at least two mechanisms. Cyclin D2 is a major player in cell cycle regulation and Cyclin D2 dysregulation promotes tumor development. Furthermore, overexpression of integrin beta 7 affects the interaction between myeloma cells and bone marrow stroma and thus promotes transformation of malignant plasma cells.

Clinical Applications

  • Multiple Myeloma and Plasma Cell Neoplasms (MM)
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Images

XL t(14;16) IGH/MAF DF

XL t(14;16) IGH/MAF DF hybridized to lymphocytes. One normal metaphase and one normal interphase are shown.

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Expected Patterns

Expected Pattern 1

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

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.

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Literature

  • Chesi et al (1998) Blood 91:4457-4463
  • Hurt et al (2004) Cancer Cell 5:191-199
  • Rajan and Rajkumar (2015) Blood Cancer J 5:e365

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