Breakpoint heterogeneity in t(10;11) translocation in AML-M4/M5 resulting in fusion of AF10 and MLL is resolved by fluorescent in situ hybridization analysis

Cancer Res. 1995 Oct 1;55(19):4220-4.

Abstract

Ten AML-M4/M5 patients' samples containing a t(10;11) translocation, but with different cytogenetic breakpoints on chromosome 11q (11q13-23), were studied by G- and R-banding and fluorescent in situ hybridization. Southern blotting analysis, studied in five patients, revealed a rearranged MLL gene. Reverse transcription-PCR analysis carried out in six patients showed a 5' MLL-3' AF-10 fusion transcript. Fluorescent in situ hybridization studies suggested that in 8 of 10 patients, the rearrangement/fusion transcript resulted from an inversion of a part of 11q (q13q23) translocated to 10p12. In the other two patients, it is assumed that an inversion/translocation has occurred of a part of 10p to the der(11). The results suggest that the orientation of the AF-10 gene on 10p is 5' telomeric and 3' centromeric. This is the first example of opposite-oriented genes being involved in translocation to yield fusion transcripts.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Child
  • Child, Preschool
  • Chromosomes, Human, Pair 10*
  • Chromosomes, Human, Pair 11*
  • Cloning, Molecular
  • DNA-Binding Proteins / genetics*
  • Histone-Lysine N-Methyltransferase
  • Humans
  • In Situ Hybridization, Fluorescence*
  • Infant
  • Leukemia, Myeloid, Acute / genetics*
  • Myeloid-Lymphoid Leukemia Protein
  • Polymerase Chain Reaction
  • Proto-Oncogenes*
  • Transcription Factors / genetics*
  • Translocation, Genetic*

Substances

  • DNA-Binding Proteins
  • KMT2A protein, human
  • MLLT10 protein, human
  • Transcription Factors
  • Myeloid-Lymphoid Leukemia Protein
  • Histone-Lysine N-Methyltransferase