NUP98 gene fusions in hematologic malignancies

Leukemia. 2001 Nov;15(11):1689-95. doi: 10.1038/sj.leu.2402269.


Acute leukemia is associated with a wide spectrum of recurrent, non-random chromosomal translocations. Molecular analysis of the genes involved in these translocations has led to a better understanding of both the causes of chromosomal rearrangements as well as the mechanisms of leukemic transformation. Recently, a number of laboratories have cloned translocations involving the NUP98 gene on chromosome 11p15.5, from patients with acute myelogenous leukemia (AML), myelodysplastic syndrome (MDS), chronic myelogenous leukemia (CML), and T cell acute lymphoblastic leukemia (T-ALL). To date, at least eight different chromosomal rearrangements involving NUP98 have been identified. The resultant chimeric transcripts encode fusion proteins that juxtapose the N-terminal GLFG repeats of NUP98 to the C-terminus of the partner gene. Of note, several of these translocations have been found in patients with therapy-related acute myelogenous leukemia (t-AML) or myelodysplastic syndrome (t-MDS), suggesting that genotoxic chemotherapeutic agents may play an important role in generating chromosomal rearrangements involving NUP98.

Publication types

  • Review

MeSH terms

  • Artificial Gene Fusion
  • Homeodomain Proteins / genetics
  • Humans
  • Leukemia / genetics*
  • Models, Biological
  • Myelodysplastic Syndromes / genetics
  • Nuclear Pore Complex Proteins / chemistry
  • Nuclear Pore Complex Proteins / genetics*
  • Nuclear Pore Complex Proteins / physiology
  • Oncogene Proteins, Fusion / genetics
  • Oncogene Proteins, Fusion / physiology*
  • Protein Structure, Tertiary
  • Translocation, Genetic*


  • Homeodomain Proteins
  • Nuclear Pore Complex Proteins
  • Oncogene Proteins, Fusion
  • nuclear pore complex protein 98