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Analysis of NUP98/NSD1 translocations in adult AML and MDS patients

Leukemia volume 27, pages 750–754 (2013)Cite this article

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The Nucleoporin 98 (NUP98) gene has received a significant amount of interest in hematology because of the discovery of numerous NUP98 gene fusions in hematopoetic malignancies, with at least 28 reported fusion partner genes.1 Together with ∼50 other proteins, the NUP98 protein belongs to the nuclear pore complex (NPC). In addition to its role within the NPC, NUP98 has been found to be involved in gene transcription, cell cycle progression and mitotic spindle formation.1 Thus, NUP98 has very different roles in cell homeostasis.

Recently, a specific fusion of NUP98 with nuclear receptor-binding SET domain protein 1 (NSD1), which is cytogenetically cryptic, has been analyzed in a large cohort of pediatric and adult acute myeloid leukemic (AML) patients.2 NSD1 belongs to a large family of histone methyltransferases that are capable of both negatively and positively influencing transcription.3

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Authors and Affiliations

  1. Department of Hematology, Hemostasis, Oncology, and Stem Cell Transplantation, Hannover Medical School, Hannover, Germany

    F Thol, B Kölking, F Damm, K Wagner, M Morgan, J Krauter, A Ganser & M Heuser

  2. Department of Pediatric Oncology/Hematology, Erasmus MC-Sophia Children’s Hospital, Rotterdam, The Netherlands

    I H I Hollink, M M van den Heuvel-Eibrink & C Michel Zwaan

  3. Department of Internal Medicine III, University of Frankfurt, Frankfurt, Germany

    G Bug & O Ottmann

  4. Department of Hematology and Oncology, University Hospital Mannheim, Mannheim, Germany

    W K Hofmann

  5. Institute of Cell and Molecular Pathology, Hannover Medical School, Hannover, Germany

    G Göhring & B Schlegelberger

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  1. F Thol
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  2. B Kölking
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  15. M Heuser
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Correspondence to F Thol.

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Thol, F., Kölking, B., Hollink, I. et al. Analysis of NUP98/NSD1 translocations in adult AML and MDS patients. Leukemia 27, 750–754 (2013). https://doi.org/10.1038/leu.2012.249

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