A Complex t(1;22;11)(q44;q13;q23) Translocation Causing MLL-p300 Fusion Gene in Therapy-Related Acute Myeloid Leukemia

Eur J Haematol. 2008 Dec;81(6):475-80. doi: 10.1111/j.1600-0609.2008.01154.x. Epub 2008 Sep 6.


The p300 protein shows a striking homology with cyclic-AMP-response-element-binding-protein binding protein (CBP) and both proteins form a family of DNA-binding transcriptional coactivators/histone acetyltransferases. The authors, herein, report a therapy-related acute myeloid leukemia with MLL-p300 fusion gene. Spectral karyotyping clarified that chromosome 11 is involved in complex t(1;22;11)(q44;q13;q23), and is fused to the chromosome 22, and direct sequencing revealed the fusion of exon 8 of MLL and exon 15 of p300 in this case. This is only the second reported case of leukemia with an MLL-p300 fusion gene, and the other case with MLL-p300 was also a therapy-related leukemia. Considering that the MLL-CBP fusion gene is also found almost exclusively in therapy-related leukemia, the association of MLL-p300 and MLL-CBP with therapy-related leukemia rather than de novo leukemia is thereby suggested.

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Chromosomes, Human, Pair 11 / genetics*
  • Chromosomes, Human, Pair 22 / genetics*
  • Exons / genetics
  • Female
  • Histone-Lysine N-Methyltransferase
  • Humans
  • Leukemia, Myeloid, Acute / chemically induced*
  • Leukemia, Myeloid, Acute / genetics*
  • Myeloid-Lymphoid Leukemia Protein / genetics*
  • Neoplasms, Second Primary / chemically induced*
  • Neoplasms, Second Primary / genetics*
  • Neoplasms, Second Primary / pathology
  • Neuroblastoma / drug therapy
  • Neuroblastoma / genetics
  • Neuroblastoma / pathology
  • Oncogene Proteins, Fusion / genetics*
  • Translocation, Genetic*
  • p300-CBP Transcription Factors / genetics*


  • KMT2A protein, human
  • Oncogene Proteins, Fusion
  • Myeloid-Lymphoid Leukemia Protein
  • Histone-Lysine N-Methyltransferase
  • p300-CBP Transcription Factors