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Nucleoporin 98kDa gene (NUP98) rearrangements have been identified in a wide range of hematologic malignancies, including acute myeloid leukemia (AML), acute lymphoblastic leukemia (ALL), chronic myeloid leukemia in blast crisis (CML-bc), myelodysplastic syndrome (MDS) and bilineage/biphenotypic leukemia. The NUP98 gene is highly promiscuous with regard to its recombination spectrum, as at least 28 different partner genes have been identified for NUP98 rearrangements, all forming in-frame fusion genes. Patients with NUP98 gene rearrangements have an aggressive clinical course and the outcome of treatment is disappointing. The NUP98 (11p15) Break FISH Probe is optimized to detect translocations involving the NUP98 gene region at 11p15 in a dual-color assay on metaphase/interphase spreads, blood smears and bone marrow cells.
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