A NUP98-positive acute myeloid leukemia with a t(11;12)(p15;q13) without HOXC cluster gene involvement

Cancer Genet Cytogenet. 2009 Sep;193(2):109-11. doi: 10.1016/j.cancergencyto.2009.04.015.

Abstract

We report a case of adult acute myeloid leukemia with a new t(11;12)(p15;q13) underlying a NUP98 rearrangement without HOXC cluster gene involvement. We designed a specific double-color double-fusion FISH assay to discriminate between this t(11;12)(p15;q13) and those producing NUP98-HOXC11 or NUP98-HOXC13. Our fluorescence in situ hybridization (FISH) showed that putative candidate partners mapping 600 kilobases centromeric to HOXC were RARG (retinoic acid receptor gamma), MFSD5 (major facilitator superfamily domain containing 5), and ESPL1 (extra spindle pole bodies homolog 1). It is noteworthy that so far only ESPL1 has been implicated in human cancers. This FISH assay is useful for diagnostic screening of NUP98-positive leukemias.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Chromosomes, Human, Pair 11*
  • Chromosomes, Human, Pair 12*
  • Female
  • Genes, Homeobox*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Leukemia, Myeloid, Acute / genetics*
  • Multigene Family
  • Nuclear Pore Complex Proteins / genetics*
  • Translocation, Genetic*

Substances

  • Nuclear Pore Complex Proteins
  • Nup98 protein, human