TY - JOUR
T1 - An MLL-SEPT9 fusion and t(11;17)(q23;q25) associated with de novo myelodysplastic syndrome
AU - Kreuziger, Lisa M.Baumann
AU - Porcher, Julie Cliff
AU - Ketterling, Rhett P.
AU - Steensma, David P.
N1 - Funding Information:
This study was supported by National Cancer Institute K12 CA90628 to D.P.S. and by a grant from the Robert A. Kyle Hematologic Malignancies Fund.
PY - 2007/8
Y1 - 2007/8
N2 - 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.
AB - 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.
KW - MLL
KW - Myelodysplastic syndrome
KW - Septin family proteins
KW - Translocations
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U2 - 10.1016/j.leukres.2006.07.017
DO - 10.1016/j.leukres.2006.07.017
M3 - Letter
C2 - 17250889
AN - SCOPUS:34548032844
SN - 0145-2126
VL - 31
SP - 1145
EP - 1148
JO - Leukemia Research
JF - Leukemia Research
IS - 8
ER -