Molecular characterisation of a recurrent, semi-cryptic RUNX1 translocation t(7;21) in myelodysplastic syndrome and acute myeloid leukaemia

Research output: Contribution to journalArticle


P>A proportion of cytogenetic abnormalities in myelodysplastic syndromes (MDS) and acute myeloid leukaemia (AML) may escape detection by high-resolution genomic technologies, but can be identified by conventional cytogenetic and molecular analysis. Here, we report the detection of a reciprocal translocation t(7;21)(p22;q22) in the marrow of two adults with MDS and AML, using conventional cytogenetic analysis and fluorescence-in situ-hybridization (FISH). Reverse-transcription polymerase chain reaction (RT-PCR) and sequence analysis identified a fusion between RUNX1 and the gene encoding ubiquitin specific peptidase-42 (USP42), with splice-variants and variable break-points within RUNX1. Combined cytomorphology and FISH studies in MDS marrow revealed abnormal RUNX1 signals within megakaryocytes, suggesting that the acquisition of t(7;21)(p22;q22) does not confer complete differentiation arrest and may represent an early genetic event in leukaemogenesis. Single nucleotide polymorphism-arrays failed to detect additional sub-microscopic genomic changes predisposing to or associated with t(7;21). Molecular analysis of 100 MDS and AML marrow specimens by RT-PCR did not reveal new cases with the RUNX1-USP42 fusion. Thus, our studies have identified t(7;21)(p22;q22) as a rare but recurrent abnormality in MDS/AML, with the existence of alternative spliced forms of the RUNX1-USP42 transcript in different patients. Further studies are required to identify the potential contribution of these splice-variants to disease heterogeneity.


  • Nicola Foster
  • Kajsa Paulsson
  • Mark Sales
  • Joan Cunningham
  • Michael Groves
  • Nigel O'Connor
  • Suriya Begum
  • Tracy Stubbs
  • Dominic J. McMullan
  • Michael Griffiths
  • Norman Pratt
  • Sudhir Tauro
Research areas and keywords

Subject classification (UKÄ) – MANDATORY

  • Hematology


  • myelodysplastic syndrome, RUNX1-USP42, acute myeloid leukaemia
Original languageEnglish
Pages (from-to)938-943
JournalBritish Journal of Haematology
Issue number6
Publication statusPublished - 2010
Publication categoryResearch