A systematic description of MLL fusion gene formation

Crit Rev Oncol Hematol. 2014 Sep;91(3):283-91. doi: 10.1016/j.critrevonc.2014.03.004. Epub 2014 Apr 8.

Abstract

Rearrangements of the MLL gene involve multiple partners and are implicated in both therapy related acute leukemia [tAL] and infant acute leukemia. For these diseases, recently compiled clinical data confirms an elevated frequency of such breakpoints within a 4 kb tract between exon 11 and a region of structural instability adjacent to exon 12. Linked primarily to cases of tAL, interference with topoisomerase II activity may either contribute to the initial DNA lesion directly or indirectly by, for example, providing a physical block to transcription progression. Alternatively, sites of fragmentation may be mis-repaired, guided by intergenic spliced transcripts of the participating genes. Co-transcription of MLL and potential fusion partners may provide the localization that enhances the probability of gene interaction. An indirect role for the leukemogenic activity of topoisomerase II inhibitors would imply that the negative consequences of their use may be separated from their therapeutic effects.

Keywords: AICDA; Acute leukemia; MLL; Recombinome; Topoisomerase II; Transcription factory; Translocation.

Publication types

  • Research Support, N.I.H., Extramural
  • Review

MeSH terms

  • Adult
  • Cytidine Deaminase / genetics
  • Cytidine Deaminase / metabolism
  • DNA Topoisomerases, Type II / genetics
  • DNA Topoisomerases, Type II / metabolism
  • Epistasis, Genetic
  • Exons
  • Gene Expression Regulation, Leukemic*
  • Histone-Lysine N-Methyltransferase
  • Humans
  • Infant
  • Introns
  • Leukemia, Biphenotypic, Acute / genetics*
  • Leukemia, Biphenotypic, Acute / metabolism
  • Leukemia, Biphenotypic, Acute / pathology
  • Myeloid-Lymphoid Leukemia Protein / genetics*
  • Myeloid-Lymphoid Leukemia Protein / metabolism
  • Neoplasms, Second Primary / chemically induced
  • Neoplasms, Second Primary / genetics*
  • Neoplasms, Second Primary / metabolism
  • Neoplasms, Second Primary / pathology
  • Oncogene Proteins, Fusion / genetics*
  • Oncogene Proteins, Fusion / metabolism
  • Topoisomerase Inhibitors / adverse effects
  • Translocation, Genetic

Substances

  • KMT2A protein, human
  • Oncogene Proteins, Fusion
  • Topoisomerase Inhibitors
  • Myeloid-Lymphoid Leukemia Protein
  • Histone-Lysine N-Methyltransferase
  • AICDA (activation-induced cytidine deaminase)
  • Cytidine Deaminase
  • DNA Topoisomerases, Type II