The role of NUP98 gene fusions in hematologic malignancy

Leuk Lymphoma. 2004 Jul;45(7):1341-50. doi: 10.1080/10428190310001659325.

Abstract

Chromosomal aberrations occur with great frequency and some specificity in leukemia and other hematologic malignancies. The most common outcome of these rearrangements is the formation of a fusion gene, comprising portions of 2 genes normally present in the cell. These fusion proteins are presumed to be oncogenic; in many cases, animal models have proven them to be oncogenic. One of the most promiscuous fusion partner genes is the newly identified NUP98 gene, located on chromosome 11p15.5, which to date has been observed fused to 15 different fusion partners. NUP98 encodes a 98 kD protein that is an important component of the nuclear pore complex, which mediates nucleo-cytoplasmic transport of protein and RNA. The fusion partners of NUP98 form 2 distinct groups: homeobox genes and non-homeobox genes. All NUP98 fusions join the N-terminal GLFG repeats of NUP98 to the C-terminal portion of the partner gene, which, in the case of the homeobox gene partners, includes the homeodomain. Clinical findings are reviewed here, along with the findings of several in vivo and in vitro models have been employed to investigate the mechanisms by which NUP98 fusion genes contribute to the pathogenesis of leukemia.

Publication types

  • Review

MeSH terms

  • Acute Disease
  • Antineoplastic Agents / pharmacology
  • Cell Transformation, Neoplastic / genetics
  • Chromosome Breakage
  • Chromosomes, Human, Pair 11 / genetics
  • DNA Topoisomerases, Type II / physiology
  • Enzyme Inhibitors / pharmacology
  • Genes, Homeobox
  • Hematologic Neoplasms / genetics*
  • Hematologic Neoplasms / metabolism
  • Homeodomain Proteins / genetics
  • Homeodomain Proteins / physiology
  • Humans
  • Leukemia / genetics
  • Leukemia / metabolism
  • Models, Genetic
  • Neoplasm Proteins / genetics
  • Neoplasm Proteins / physiology
  • Nuclear Pore / physiology
  • Nuclear Pore Complex Proteins / genetics*
  • Nuclear Pore Complex Proteins / physiology
  • Oncogene Proteins, Fusion / genetics*
  • Oncogene Proteins, Fusion / physiology
  • Protein Structure, Tertiary
  • Topoisomerase II Inhibitors
  • Translocation, Genetic

Substances

  • Antineoplastic Agents
  • Enzyme Inhibitors
  • Homeodomain Proteins
  • Neoplasm Proteins
  • Nuclear Pore Complex Proteins
  • Nup98 protein, human
  • Oncogene Proteins, Fusion
  • Topoisomerase II Inhibitors
  • DNA Topoisomerases, Type II