XL t(14;20) IGH/MAFB DF

Translocation/Dual Fusion Probe

Order Number
D-5105-100-OG
Package Size
100 µl
Labels
  
Chromosomes
1420

Description

XL t(14;20) IGH/MAFB DF

XL t(14;20) IGH/MAFB DF is designed as a dual fusion probe. The orange labeled probe flanks the large breakpoint at 20q12 (proximal to MAFB), 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.
Even if associated with poor prognosis in MM, MGUS/SMM cases characterized by t(14;20) can be stable for years before progression occurs whereas MGUS/SMM cases with t(4;14) and t(14;16) showing a higher progression rate. The recurrent t(14;20) results in ectopic expression of the basic leucine zipper transcription factor MAFB which has an important role in lineage-specific hematopoiesis.

Clinical Applications

  • Multiple Myeloma and Plasma Cell Neoplasms (MM)

Images

XL t(14;20) IGH/MAFB DF

XL t(14;20) IGH/MAFB 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

  • Boersma-Vreugdenhil et al (2004) Brit J Haem 126:355-363
  • Ross et al (2010) Haematologica 95:1221-1225
  • Rajan and Rajkumar (2015) Blood Cancer J. 5:e365

Downloads

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