The t(11;16)(q23;p13) translocation in myelodysplastic syndrome fuses the MLL gene to the CBP gene

Blood. 1997 Jun 1;89(11):3945-50.

Abstract

The recurrent translocation t(11;16)(q23;p13) has been reported to be associated with therapy-related acute leukemia. The MLL gene involved in other 11q23 abnormalities was also rearranged by this translocation. We analyzed two patients with myelodysplastic syndrome with t(11;16) and showed that the MLL gene on 11q23 was fused with CREB-binding protein (CBP) gene on 16p13 in these patients. The CBP gene encodes a transcriptional adaptor/coactivator protein and it is mutated in patients with Rubinstein-Taybi syndrome. The CBP gene is also involved in acute myeloid leukemia (AML) with t(8;16)(p11;p13). In-frame MLL-CBP fusion transcripts combine the MLL AT-hook motifs and DNA methyltransferase homology region with a largely intact CBP. Our results combined with the finding of the MOZ-CBP fusion in t(8;16)-AML suggest that the CBP gene may be associated with leukemogenesis through translocations.

Publication types

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

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • Carrier Proteins / genetics*
  • Child
  • Child, Preschool
  • Chromosomes, Human, Pair 11*
  • Chromosomes, Human, Pair 16*
  • DNA-Binding Proteins / genetics*
  • Female
  • Gene Rearrangement
  • Histone-Lysine N-Methyltransferase
  • Humans
  • Male
  • Molecular Sequence Data
  • Myelodysplastic Syndromes / genetics*
  • Myeloid-Lymphoid Leukemia Protein
  • Proto-Oncogenes*
  • Transcription Factors*
  • Translocation, Genetic*

Substances

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