An MLL-SEPT9 fusion and t(11;17)(q23;q25) associated with de novo myelodysplastic syndrome

Lisa M.Baumann Kreuziger, Julie Cliff Porcher, Rhett P. Ketterling, David P. Steensma

Research output: Contribution to journalLetterpeer-review

20 Scopus citations


Rearrangements of the MLL gene at chromosome 11q23 are uncommon in de novo myelodysplastic syndrome (MDS). Here, we describe molecular findings in a patient with multilineage dysplasia and t(11;17)(q23;q25) who responded to decitabine therapy. Fluorescent in situ hybridization (FISH) demonstrated rearrangement of MLL, while RT-PCR analysis and sequencing identified the transcript fusion partner as SEPT9, a member of the septin family of GTPases. MLL-SEPT9 fusion appears to be rare, having been described to date in only seven cases of AML and not, to our knowledge, in MDS. Analysis of MLL-septin family member fusion products such as the one seen here may provide further insights into the etiology of myeloid neoplasia, and MLL-SEPT9 fusion may be worth seeking in other cases of MLL rearrangements with a translocation partner on chromosome 17q.

Original languageEnglish (US)
Pages (from-to)1145-1148
Number of pages4
JournalLeukemia Research
Issue number8
StatePublished - Aug 2007


  • MLL
  • Myelodysplastic syndrome
  • Septin family proteins
  • Translocations

ASJC Scopus subject areas

  • Hematology
  • Oncology
  • Cancer Research


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