Common gene expression signatures in t(8;21)- and inv(16)-acute myeloid leukaemia

Hitoshi Ichikawa, Kenji Tanabe, Hiroshi Mizushima, Yasuhide Hayashi, Shuki Mizutani, Eiichi Ishii, Teruaki Hongo, Akira Kikuchi, Masanobu Satake

Research output: Contribution to journalArticlepeer-review

17 Citations (Scopus)


Human acute myeloid leukaemia (AML) involving a core-binding factor (CBF) transcription factor is called CBF leukaemia. In these leukaemias, AML1 (RUNX1, PEBP2αB, CBFα2)-MTG8 (ETO) and CBFβ (PEBP2β)-MYH11 chimaeric proteins are generated by t(8;21) and inv(16) respectively. We analysed gene expression profiles of leukaemic cells by microarray, and selected genes whose expression appeared to be modulated in association with t(8;21) and inv(16). In a pair-wise comparison, 15% of t(8;21)-associated transcripts exhibited high or low expression in inv(16)-AML, and 26% of inv(16)-associated transcripts did so equivalently in t(8;21)-AML. These common elements in gene expression profiles between t(8;21)- and inv(16)-AML probably reflect the situation that AML1-MTG8 and CBFβ-MYH11 chimaeric proteins affect a common set of target genes in CBF leukaemic cells. On the other hand, 38% of t(8;21)-associated and 24% of inv(16)-associated transcripts were regulated in t(8;21)- and inv(16)-specific manners. These distinct features of t(8;21)- and inv(16)-associated genes correlate with the bimodular structures of the chimaeric proteins (CBF-related AML1 and CBFβ portions, and CBF-unrelated MTG8 and MYH11 portions).

Original languageEnglish
Pages (from-to)336-347
Number of pages12
JournalBritish Journal of Haematology
Issue number3
Publication statusPublished - 2006 Nov
Externally publishedYes


  • Chimaera protein
  • Gene expression
  • Microarray
  • Transcription factor

ASJC Scopus subject areas

  • Hematology


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