XL DDIT3 BA

Break Apart Probe

Order Number
D-6032-100-OG
Package Size
100 µl (10 Tests)
Labels
  
Chromosome
12

Description

XL DDIT3 BA

XL DDIT3 BA is designed as a break apart probe. The orange labeled probe hybridizes proximal to the breakpoint in the DDIT3 gene region at 12q13, the green labeled probe hybridizes distal to the breakpoint.

This probe is intended for methanol/acetic-acid fixed cells and tissue sections.

Probe map details based on UCSC Genome Browser GRCh37/hg19. Map components not to scale.

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Clinical Details

Histological similarities and a subset of common immunohistochemical features make the diagnosis of soft tissue neoplasms challenging. Several entities characterizing reciprocal translocations have been identified and FISH based assays specific for the detection of these aberrations have become a valuable tool in diagnostics today. Myxoid/round cell liposarcoma (MRCLS) is the most common liposarcoma with an increased incidence in the extremities. Compared to other liposarcomas, MRCLS has a greater tendency for metastasis. It is characterized by the reciprocal translocation t(12;16)(q13;p11) which is present in up to 95% of cases. The resulting FUS-DDIT3 fusion protein has oncogenic potential and interferes with adipogenic differentiation. A paralog of FUS with high sequence homology is the EWS RNA Binding Protein 1 (EWSR1). EWSR1 is an alternative translocation partner of DDIT3 and the resulting fusion protein EWSR1-DDIT3, originating from t(12;22)(q13;q12), accounts for <5% of MRCLS cases. DDIT3 rearrangements are highly specific for MRCLS due to the presence of FUS-DDIT3 or EWSR1-DDIT3 fusion genes.

Clinical Applications

  • Solid Tumors (Solid Tumors)
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Images

XL DDIT3 BA

XL DDIT3 BA hybridized to a tissue specimen, one aberrant cell is shown.

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Expected Patterns

Expected Pattern 1

Normal Cell:
Two green-orange colocalization/fusion signals (2GO).

Expected Pattern 2

Aberrant Cell (typical results):
One green-orange colocalization/fusion signal (1GO), one separate green (1G) and orange (1O) signal each resulting from a chromosome break in the respective locus.

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Literature

  • Cristina et al (2000) JMD 2:132-138
  • Downs-Kelly et al (2008) Am J Surg Pathol 32:8-13
  • Tanas et al (2009) Adv Anat Pathol 16:383-391

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