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 journalLetter

18 Scopus citations

Abstract

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
Volume31
Issue number8
DOIs
StatePublished - Aug 2007

Keywords

  • MLL
  • Myelodysplastic syndrome
  • Septin family proteins
  • Translocations

ASJC Scopus subject areas

  • Hematology
  • Oncology
  • Cancer Research

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    Kreuziger, L. M. B., Porcher, J. C., Ketterling, R. P., & Steensma, D. P. (2007). An MLL-SEPT9 fusion and t(11;17)(q23;q25) associated with de novo myelodysplastic syndrome. Leukemia Research, 31(8), 1145-1148. https://doi.org/10.1016/j.leukres.2006.07.017