t(11;22)(q23;q11.2) KMT2A/SEPT5

2000-02-01   Jean-Loup Huret 

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

Clinics and Pathology


de novo acute myeloid leukemia (AML), so far

Phenotype stem cell origin

2 cases of M4, one M2, and one M1


yet poorly known; 2 young adulds (22 and 34 yrs) and 2 infant twins; 2M/2F


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)
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)
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


5 prime MLL - 3 poime hCDCRel, with fusion of MLL exon 7 to hCDCRel exon 3

Highly cited references

Pubmed IDYearTitleCitations
293268222018Acute myeloid leukemia with KMT2A-SEPT5 translocation: A case report and review of the literature.2


Pubmed IDLast YearTitleAuthors
95291251998Acute myeloid leukemia with 11q23 translocations: myelomonocytic immunophenotype by multiparameter flow cytometry.Baer MR et al
86160371996Molecular cloning of the breakpoint of t(11;22) (q23;q11) chromosome translocation in an adult acute myelomonocytic leukaemia.Marukawa O et al
96009801998t(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
96112661998Structure and expression of the human septin gene HCDCREL-1.Yagi M et al


Fusion gene

KMT2A/SEPT5 KMT2A (11q23.3) SEPT5 (22q11.21) COF 1844 1845|KMT2A/SEPT5 KMT2A (11q23.3) SEPT5 (22q11.21) TIC


not to be confused with the t(11;22)(q23;q13), involving MLL and P300


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)