Abstract
The inv(11)(p15q22), a rare but recurrent chromosome abnormality that creates a NUP98-DDX10 fusion gene, is associated with de novo or secondary myeloid malignancies. We report a case of acute monocytic leukemia presenting this rearrangement, studied using fluorescence in situ hybridization (FISH) and reverse transcriptase-PCR (RT-PCR). We also review the cases of inv(11) associated with NUP98-DDX10 reported in the literature.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
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Review
MeSH terms
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Child
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Chromosome Inversion*
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Chromosomes, Human, Pair 11 / genetics*
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DEAD-box RNA Helicases / genetics*
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Gene Fusion*
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Humans
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Leukemia, Myeloid, Acute / drug therapy
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Leukemia, Myeloid, Acute / enzymology
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Leukemia, Myeloid, Acute / genetics*
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Male
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Molecular Sequence Data
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Nuclear Pore Complex Proteins / genetics*
Substances
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Nuclear Pore Complex Proteins
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Nup98 protein, human
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DDX10 protein, human
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DEAD-box RNA Helicases
Associated data
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GENBANK/AB040537
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GENBANK/AB040538