t(11;17)(q23;q25) KMT2A/SEPT9

2000-04-01   Jean-Loup Huret 

1.Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

Clinics and Pathology


de novo and treatment related acute myeloid leukemia (AML), myelodysplastic syndromes (MDS); acute lymphoblastic leukemia (ALL) at times

Phenotype stem cell origin

various subtypes of AML may be found, M4 in particular, but also M1, M2, M5


at least 24 cases described; often found in children and young adults



Genes Involved and Proteins

Gene name
KMT2A (myeloid/lymphoid or mixed lineage leukemia)
Protein description
contains two DNA binding motifs (a AT hook, and Zinc fingers), a DNA methyl transferase motif, a bromodomain; transcriptional regulatory factor; nuclear localisation
Gene name
SEPT9 (MLL septin-like fusion)
Protein description
protein which belongs to the septin family

Result of the Chromosomal Anomaly


5 MLL - 3 MSF; fusion at MLL exon 5; the reciprocal MSF-MLL is also transcribed, but out of frameNH2 - AT hook and DNA methyltransferase from MLL fused to most of MSF in COOH

Highly cited references

Pubmed IDYearTitleCitations
304552252018A case of KMT2A-SEPT9 fusion-associated acute megakaryoblastic leukemia.1
355665032022Genetic Characteristics According to Subgroup of Acute Myeloid Leukemia with Myelodysplasia-Related Changes.0


Pubmed IDLast YearTitleAuthors
95932861998Ten novel 11q23 chromosomal partner sites. European 11q23 Workshop participants.Harrison CJ et al
103396041999MSF (MLL septin-like fusion), a fusion partner gene of MLL, in a therapy-related acute myeloid leukemia with a t(11;17)(q23;q25).Osaka M et al
104854691999AF17q25, a putative septin family gene, fuses the MLL gene in acute myeloid leukemia with t(11;17)(q23;q25).Taki T et al


Fusion gene

KMT2A/SEPT9 KMT2A (11q23.3) SEPT9 (17q25.2) COF 1927 1928 1929 1930 1931 1932 1933 1934 1935 2065|KMT2A/SEPT9 KMT2A (11q23.3) SEPT9 (17q25.2) TIC
Atlas Image
t(11;17)(q23;q25) G-banding; left: - Courtesy Jean Luc Lai; right: Courtesy Diane H. Norback, Eric B. Johnson, Sara Morrison-Delap =UW Cytogenetic Services .


Jean-Loup Huret

t(11;17)(q23;q25) KMT2A/SEPT9

Atlas Genet Cytogenet Oncol Haematol. 2000-04-01

Online version: http://atlasgeneticsoncology.org/haematological/1133/t(11;17)(q23;q25)