NUP214 probe for ISH CE/IVD - Myelodysplastic syndromes (MDS)

NUP214 probe for ISH CE/IVD - Myelodysplastic syndromes (MDS)

 

Rearrangements of the NUP214 gene have been implicated in the pathogenesis of several types of hematologic malignancies, including T-cell acute lymphoblastic leukaemia (T-ALL), acute myeloid leukemia (AML), and also myelodysplastic syndrome (MDS). Several fusion partners have been identified for NUP214. The most common are the DEK, SET, and the tyrosine kinase encoding gene ABL1. The translocation t(6;9)(p22.3;q34.1) results in a DEK-NUP214 fusion and defines a specific subcategory of AML according to the World Health Organization 2008 classification. The SET-NUP214 fusion is associated with T-ALL, less frequently with AML, and acute undifferentiated leukemia and can result from either a translocation or a deletion. NUP214-ABL1 fusions are exclusively associated with T-ALL patients. These patients may be considered for a targeted therapy with specific tyrosine kinase inhibitors. The fusion is often located on amplified episomes and is cytogenetically cryptic but can be detected by FISH. Malignancies with NUP214 rearrangements are associated with a poor prognosis indicating the usefulness of NUP214 also as a prognostic biomarker.

 

 

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