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

✍ Scribed by Lisa M. Baumann Kreuziger; Julie Cliff Porcher; Rhett P. Ketterling; David P. Steensma

• Publisher: Elsevier Science
• Year: 2007
• Tongue: English
• Weight: 279 KB
• Volume: 31
• Category: Article
• ISSN: 0145-2126
• DOI: 10.1016/j.leukres.2006.12.006

✦ Synopsis

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.