Segmental amplification of MLL gene associated with high expression of AURKA and AURKB genes in a case of acute monoblastic leukemia with complex karyotype

Cancer Genet Cytogenet. 2010 Apr 1;198(1):62-5. doi: 10.1016/j.cancergencyto.2009.12.005.

Abstract

We report a case of acute monoblastic leukemia showing a jumping translocation with the MLL gene in a 17-year-old male. Classic cytogenetic and spectral karyotyping revealed a complex karyotype, and fluorescence in situ hybridization (FISH) demonstrated amplification of the MLL gene followed by translocation to chromosomes 15q, 17q, and 19q. In addition, molecular analyses showed a high expression of AURKA and AURKB genes. It is already known that overexpression of Aurora kinases is associated with chromosomal instability and poor prognosis. The formation of jumping translocations is a rare cytogenetic event and there is evidence pointing toward preferential involvement of the heterochromatin region of donor chromosomes and the telomere ends of recipient chromosomes. Jumping translocation with the MLL gene rearrangement is an uncommon phenomenon reported in leukemia cytogenetics.

Publication types

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

MeSH terms

  • Adolescent
  • Aurora Kinase A
  • Aurora Kinase B
  • Aurora Kinases
  • Chromosome Aberrations
  • Gene Amplification
  • Humans
  • Leukemia, Monocytic, Acute / genetics
  • Male
  • Myeloid-Lymphoid Leukemia Protein / genetics
  • Protein Serine-Threonine Kinases / genetics*
  • Translocation, Genetic
  • Up-Regulation

Substances

  • Myeloid-Lymphoid Leukemia Protein
  • AURKA protein, human
  • AURKB protein, human
  • Aurora Kinase A
  • Aurora Kinase B
  • Aurora Kinases
  • Protein Serine-Threonine Kinases