INTRODUCTION: Mixoid / round cell liposarcoma (MRCLS) is the most common liposarcoma. In comparison with other liposarcomas, MRCLS has a greater tendency to metastasize. Rearrangements and abnormal expression of the DDIT3 gene also known as CHOP, CEBPZ, CHOP10, CHOP-10, GADD153 in myxoid liposarcoma and other malignancies have been observed. One most common abnormality is the reciprocal translocation t (12; 16) (q13; p11) that is present in up to 95% of cases. The resulting FUS-DDIT3 fusion protein has oncogenic potential and interferes with adipogenic differentiation. EWSR1 is an alternative translocation partner of DDIT3 and the resulting fusion protein EWSR1-DDIT3, which originates at t (12; 22) (q13; q12), accounts for <5% of MRCLS cases. The DDIT3 rearrangements are highly specific for MRCLS due to the presence of the FUS-DDIT3 or EWSR1-DDIT3 fusion genes.
INTENDED USE: The DDIT3 Break Apart FISH probe is designed to detect rearrangements in the human DDIT3 gene located in the band of chromosome 12q13.3. In addition to detecting breaks that can lead to the translocation of parts of the gene, its inversion or its fusion to other genes, the probe can also be used to identify other aberrations of the DDIT3 gene such as deletions or amplifications.
PROBE DESCRIPTION: The telomeric 5 ‘fragment of the DDIT3 Break Apart FISH probe labeled with the CytoGreen fluorochrome covers some genomic sequences adjacent to the 5′ end of the DDIT3 geneThe 3’-centromeric fragment of the DDIT3 Break Apart FISH probe labeled with CytoOrange covers some genomic sequences of the 3 ‘end of the gene.The two probes are sequences that flank the DDIT3 gene region where several cut points have been observed.