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An MLL-SEPT9 fusion and t(11;17)(q23;q25) associated with de novo myelodysplastic syndrome. Leuk Res 2007 Aug;31(8):1145-8

Date

01/26/2007

Pubmed ID

17250889

Pubmed Central ID

PMC2768487

DOI

10.1016/j.leukres.2006.12.006

Scopus ID

2-s2.0-34548032844   20 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.

Author List

Kreuziger LM, Porcher JC, Ketterling RP, Steensma DP

Author

Lisa M. Baumann Kreuziger MD Associate Professor in the Medicine department at Medical College of Wisconsin




MESH terms used to index this publication - Major topics in bold

Chromosomes, Human, Pair 11
Chromosomes, Human, Pair 17
Female
Humans
Leukemia, Myelomonocytic, Acute
Middle Aged
Myelodysplastic Syndromes
Myeloid-Lymphoid Leukemia Protein
Oncogene Proteins, Fusion
Translocation, Genetic