t(11;17)(q23;q25) KMT2A/SEPT9
2000-04-01 Jean-Loup Huret Affiliation1.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 ID | Year | Title | Citations |
|---|---|---|---|
| 35566503 | 2022 | Genetic Characteristics According to Subgroup of Acute Myeloid Leukemia with Myelodysplasia-Related Changes. | 39 |
| 30455225 | 2018 | A case of KMT2A-SEPT9 fusion-associated acute megakaryoblastic leukemia. | 35 |
| 30899494 | 2019 | Non-acute promyelocytic leukemia variant, acute myeloid leukemia with translocation (11;17). | 19 |
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 9593286 | 1998 | Ten novel 11q23 chromosomal partner sites. European 11q23 Workshop participants. | Harrison CJ et al |
| 10339604 | 1999 | MSF (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 |
| 10485469 | 1999 | AF17q25, 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
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
