Chromosome 11 rearrangements and specific MLL amplification revealed by spectral karyotyping in a patient with refractory anaemia with excess of blasts (RAEB)

Br J Haematol. 2003 Sep;122(5):760-3. doi: 10.1046/j.1365-2141.2003.04493.x.

Abstract

A patient with refractory anaemia with excess of blasts (RAEB) had a complex karyotype with multiple markers. Spectral karyotyping (SKY) showed rearrangements including three different der(11), containing a very high number of MLL gene copies, shown by fluorescence in situ hybridization (FISH) analysis. Fibre-FISH experiments disclosed the presence of chromatin fibres with multiple MLL copies with a head-to-tail pattern. Apparently, no other region flanking the MLL site was present in the three der(11). MLL amplification was confirmed by the reverse transcription polymerase chain reaction (RT-PCR). The patient died 6 months after diagnosis, supporting the severe prognosis of sole MLL amplification.

Publication types

  • Case Reports

MeSH terms

  • Aged
  • Anemia, Refractory, with Excess of Blasts / genetics*
  • Chromosomes, Human, Pair 11*
  • DNA-Binding Proteins / genetics*
  • Gene Amplification*
  • Gene Rearrangement*
  • Histone-Lysine N-Methyltransferase
  • Humans
  • In Situ Hybridization, Fluorescence
  • Karyotyping / methods
  • Male
  • Myeloid-Lymphoid Leukemia Protein
  • Proto-Oncogenes*
  • Reverse Transcriptase Polymerase Chain Reaction
  • Transcription Factors*

Substances

  • DNA-Binding Proteins
  • KMT2A protein, human
  • Transcription Factors
  • Myeloid-Lymphoid Leukemia Protein
  • Histone-Lysine N-Methyltransferase