Chromosomal rearrangements involving the DDIT3 gene located on chromosome 12q13, are common in myxoid liposarcomas (MLS) and have also been identified in round cell (RC) and mixed liposarcomas (combined myxoid and round cell). A unique translocation t(12;16)(q13;p11) is present in >95% of MLS cases and is thus regarded as a diagnostic marker for MLS/RC. t(12;16) results in the fusion (and transcriptional deregulation ) of the genes TLS (FUS) and DDIT3, a C/EBP-family transcription factor implicated in adipocyte differentiation. Hybridization with the LSI DDIT3 (12q13) Dual Color, Break Apart Rearrangement Probe will identify chromosomal rearrangement in the DDIT3 gene but not a specific gene-fusion partner.
The DDIT3 Dual Color, Break Apart Rearrangement Probe has been used in different studies to detect DDIT3 (12q13) gene rearrangements. DDIT3 (12q13) Dual Color, Break Apart Rearrangement Probe successfully detected rearrangment of the DDIT3 (CHOP) gene in 18/18 formalin-fixed, paraffin-emmbedded tissues from myxoid liposarcoma.
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