XL t(6;9) DEK/NUP214 consists of a green-labeled probe hybridizing to the DEK gene region at 6p22.3 and an orange-labeled probe hybridizing to the NUP214 gene region at 9q34.1.

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.

Several recurrent balanced translocations and inversions, and their variants, are recognized in the WHO category acute myelogenous leukemia (AML) with recurrent genetic abnormalities. Three new cytogenetically defined entities were recently incorporated: AML with t(6;9)(p23;q34) DEK/NUP214; AML with inv(3)(q21q26.2) or t(3;3)(q21;q26.2) RPN1/EVI1 and AML (megakaryoblastic) with t(1;22)(p13;q13) RBM15/MKL1, a rare leukemia most commonly occurring in infants.

The t(6;9)(p23;q34) DEK/NUP214 fusion occurs with an incidence of 1–5% in adult patients with AML. This translocation tends to occur in younger adults and is associated with an unfavorable prognosis at diagnosis. Although the t(6;9) is usually the sole cytogenetic aberration at diagnosis, additional karyotypic abnormalities are frequently identified during disease progression.

Clinical Applications

• Acute Myelogenous Leukemia (AML)

XL t(6;9) DEK/NUP214 hybridized to lymphocytes. One normal metaphase is shown.

• Shearer et al (2005) Leukemia 19:126-131
• Doehner et al (2010) Blood 115:453-474
• Sandahl et al (2014) Haematologica 99:865-872

• 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.