t(11;22)(q23;q11.2) KMT2A/SEPT5
2000-02-01 Jean-Loup Huret Affiliation1.Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
Clinics and Pathology
Disease
de novo acute myeloid leukemia (AML), so far
Phenotype stem cell origin
2 cases of M4, one M2, and one M1
Epidemiology
yet poorly known; 2 young adulds (22 and 34 yrs) and 2 infant twins; 2M/2F
Prognosis
documented in only 2 cases (dead at 10 and 21 mths); likely to be comparable with that of other entities with 11q23/MLL11q23/MLL involvement
Genes Involved and Proteins
Gene name
KMT2A (myeloid/lymphoid or mixed lineage leukemia)
Location
11q23.3
Dna rna description
13-15 kb mRNA
Protein description
431 kDa; 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
SEPT5 (septin 5)
Location
22q11.21
Dna rna description
2 kb mRNA
Protein description
hCDCRel (human cell division cycle related) is a septin (family of filament forming proteins, involved in cytosqueletal organization)
Result of the Chromosomal Anomaly
Description
5 prime MLL - 3 poime hCDCRel, with fusion of MLL exon 7 to hCDCRel exon 3
Highly cited references
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 29326822 | 2018 | Acute myeloid leukemia with KMT2A-SEPT5 translocation: A case report and review of the literature. | 26 |
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 9529125 | 1998 | Acute myeloid leukemia with 11q23 translocations: myelomonocytic immunophenotype by multiparameter flow cytometry. | Baer MR et al |
| 8616037 | 1996 | Molecular cloning of the breakpoint of t(11;22) (q23;q11) chromosome translocation in an adult acute myelomonocytic leukaemia. | Marukawa O et al |
| 9600980 | 1998 | t(11;22)(q23;q11.2) In acute myeloid leukemia of infant twins fuses MLL with hCDCrel, a cell division cycle gene in the genomic region of deletion in DiGeorge and velocardiofacial syndromes. | Megonigal MD et al |
| 9611266 | 1998 | Structure and expression of the human septin gene HCDCREL-1. | Yagi M et al |
Summary
Fusion gene
KMT2A/SEPT5 KMT2A (11q23.3) SEPT5 (22q11.21) COF 1844 1845|KMT2A/SEPT5 KMT2A (11q23.3) SEPT5 (22q11.21) TIC
Note
Citation
Jean-Loup Huret
t(11;22)(q23;q11.2) KMT2A/SEPT5
Atlas Genet Cytogenet Oncol Haematol. 2000-02-01
Online version: http://atlasgeneticsoncology.org/haematological/1183/t(11;22)(q23;q11-2)-kmt2a-sept5
