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A novel NUP98-PHF23 fusion resulting from a cryptic translocation t(11;17)(p15;p13) in acute myeloid leukemia

Leukemia volume 21, pages 842–844 (2007)Cite this article

Chromosome translocations are recurrent features of various hematological malignancies. The cloning of the translocation breakpoints has led to the discovery of numerous important genes and considerable advancement in the understanding of leukemogenesis. The nucleoporin gene NUP98 is a frequent target of chromosomal translocations in various hematological malignancies, including pediatric and adult, de novo and therapy related, myeloid and lymphoblastic T-cell leukemia (reviewed by Slape and Aplan1). These translocations produced fusions between NUP98 and various partner genes that are either homeobox (HOX) and non-homeobox (non-HOX) genes (Table 1). We report here the identification of a cryptic translocation t(11;17)(p15;p13) in a patient with acute myeloid leukemia (AML). Molecular characterization of the translocation breakpoint revealed a fusion of NUP98 to a new non-HOX partner PHF23 or plant homeodomain (PHD) finger 23. PHF23 is a novel gene encoding a hypothetical protein with a PHD finger. Significantly, recent publications identify the PHD finger as a previously uncharacterized chromatin-binding module found in a large number of chromatin-associated proteins with functions in transcriptional regulation.2, 3

Table 1 Fusion partners of NUP98 in hematological malignancies
Full size table

Our patient was a 42-year-old male presented with white blood cells count 100 × 109/l with 79% blasts. The blast cells had following surface marker expression: CD7, CD11c, CD13, CD14 (dim), CD33, CD38, CD64, CD117 and human leukocyte antigen (HLA)-DR. He was newly diagnosed with AML and received induction therapy of idarubicin and ara-C followed by four cycles of high-dose ara-C consolidation. After achieving clinical and cytogenetic remission for 11 months, he relapsed with the same translocation. He did not respond to the re-induction chemotherapy and died in 3 months.

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Authors and Affiliations

  1. Department of Pathology and Program in Human Genetics, University of Maryland, Baltimore, MD, USA

    J C Reader, J S Meekins & Y Ning

  2. Department of Hematology-Oncology, University of Maryland, and Marlene and Stewart, Greenebaum Cancer Center, Baltimore, MD, USA

    I Gojo

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  1. J C Reader
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  2. J S Meekins
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Correspondence to Y Ning.

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Reader, J., Meekins, J., Gojo, I. et al. A novel NUP98-PHF23 fusion resulting from a cryptic translocation t(11;17)(p15;p13) in acute myeloid leukemia. Leukemia 21, 842–844 (2007). https://doi.org/10.1038/sj.leu.2404579

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