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

Disease

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

Epidemiology

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

Prognosis

poor

Genes Involved and Proteins

Gene name
KMT2A (myeloid/lymphoid or mixed lineage leukemia)
Location
11q23.3
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)
Location
17q25.2
Protein description
protein which belongs to the septin family

Result of the Chromosomal Anomaly

Description

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

Bibliography

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

Summary

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 .

Citation

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)-kmt2a-sept9

External Links