Cryptic 5' MLL gene insertion in an X-chromosome in acute myeloblastic leukemia

Cancer Genet Cytogenet. 2005 Mar;157(2):178-80. doi: 10.1016/j.cancergencyto.2004.08.015.

Abstract

Band 11q23 is known to be involved in translocations and insertions with a variety of partner chromosomes. They lead to MLL rearrangement, resulting in fusion with numerous genes. We report here on a 43-year-old man presenting with asthenia and pancytopenia who was diagnosed with acute myeloblastic leukemia FAB-M5. Conventional cytogenetic techniques showed a del(11)(q21). Using a specific probe for fluorescent in situ hybridization, the MLL gene was found to be disrupted, with the 5' region being inserted into the X-chromosome (around bands q24 approximately q25), as confirmed by whole X-chromosome painting. The accumulating data on acute myeloblastic leukemia demonstrate that the 5'-MLL insertion in an X-chromosome is a rare but recurrent abnormality associated with leukemia, not only in infants, but also in adults.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Chromosomes, Human, Pair 11*
  • Chromosomes, Human, X*
  • DNA-Binding Proteins / genetics*
  • Histone-Lysine N-Methyltransferase
  • Humans
  • In Situ Hybridization, Fluorescence
  • Karyotyping
  • Leukemia, Myeloid, Acute / genetics*
  • Male
  • Myeloid-Lymphoid Leukemia Protein
  • Proto-Oncogenes / genetics*
  • Transcription Factors / genetics*
  • Translocation, Genetic*

Substances

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