XL DDIT3 BA consists of an orange-labeled probe hybridizing proximal to the DDIT3 gene region at 12q13.3 and a green-labeled probe hybridizing distal to the DDIT3 gene region at 12q13.3-14.

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.

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)

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

• 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

• Utility and performance of bacterial artificial chromosomes-on-beads assays in chromosome analysis of clinical prenatal samples, products of conception and blood samples.
• A child with multiple congenital anomalies due to partial trisomy 7q22.1 → qter resulting from a maternally inherited balanced translocation: a case report and review of literature.
• Distinct roles of ATM and ATR in the regulation of ARP8 phosphorylation to prevent chromosome translocations.
• Heterogeneous MYCN amplification in neuroblastoma: a SIOP Europe Neuroblastoma Study.
• Immense random colocalization, revealed by automated high content image cytometry, seriously questions FISH as gold standard for detecting EML4-ALK fusion.
• Fluorescence in situ hybridisation assays designed for del(7q) detection uncover more complex rearrangements in myeloid leukaemia cell lines
• Detection of t(7;12)(q36;p13) in paediatric leukaemia using dual colour fluorescence in situ hybridisation.
• A rare case of t(11;22) in a mantle cell lymphoma like B-cell neoplasiaresulting in a fusion of IGL and CCND1: case report.
• Genomic DNA-chip hybridization in t(11;14)-positive mantle cell lymphomas shows a high frequency of aberrations and allows a refined characterization of consensus regions.