DEKNUP214

DEKNUP214 is the designation used for the DEK-NUP214 fusion gene, a chimeric allele created by the reciprocal translocation t(6;9)(p23;q34). The fusion combines the DEK gene on chromosome 6 with the NUP214 gene on chromosome 9 and is most commonly associated with acute myeloid leukemia (AML), though it has also been reported in rare myelodysplastic and mixed-phenotype cases. The DEKNUP214 transcript encodes a single protein that contains domains from both DEK and NUP214, and is thought to disrupt normal transcriptional regulation and nucleocytoplasmic transport, contributing to leukemogenesis.

Discovery and nomenclature: The DEK-NUP214 fusion was identified in AML cases during cytogenetic and molecular profiling efforts in the late 1990s and early 2000s. The shorthand DEKNUP214 is used in clinical genetics literature to refer to the fusion product.

Molecular and clinical features: DEKNUP214-positive leukemias show aberrant gene expression signatures and a tendency toward poor treatment response in some cohorts. The fusion protein localizes to the nucleus and is believed to affect chromatin structure and nuclear pore–associated transport. Co-occurring mutations can influence prognosis. Detection relies on reverse transcription PCR to identify the fusion transcript or fluorescence in situ hybridization to visualize the t(6;9) translocation; sequencing can confirm breakpoints.

Clinical significance and research: Because DEKNUP214 AML is relatively rare, consensus guidelines are limited. It is generally considered a high-risk cytogenetic abnormality in many risk stratification frameworks. Ongoing research investigates targeted approaches to counteract the fusion’s effects and to improve outcomes for affected patients.