+11 or trisomy 11 (solely) KMT2A

1997-07-01   François Desangles 

Clinics and Pathology


myeloid lineage: (AML, MDS)

Phenotype stem cell origin

M1, M2, and M4 AML;
therapy related AML;
MDS evolving towards AML;
stem cell immunophenotype (DR+, CD34+, and CD15, 33 and/or 13 positive);
trilineage dysplasia may be present;
to be noted that M1 and M2 subtypes of AML have rarely been found associated with the classical MLL rearrangements


frequency: 1% of AML and MDS as well; balanced sex ratio; found in adults; med age: 60 yrs


short CR; poor prognosis


Cytogenetics morphological


Cytogenetics molecular

partial(!) tandem duplication (in situ) of MLL, gene located in 11q23

Additional anomalies

none (by that very fact)

Genes Involved and Proteins

Gene name
KMT2A (myeloid/lymphoid or mixed lineage leukemia)
Dna rna description
21 exons, spanning over 100 kb; 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 ;
wide expression;
nuclear localisation;
transcriptional regulatory factor

Result of the Chromosomal Anomaly


exons 1 to 6 or 8 fused to a nearly entire MLL gene, starting at exon 2 (i.e. the duplicated segment is E2 to E6 or 8)AT hook and DNA methyltransferase from MLL in N-term fused to a quite entire MLL in C-term nuclear localisation probable altered transcriptional regulation


Pubmed IDLast YearTitleAuthors
26745631989Characteristics of trisomy 11 in childhood acute leukemia with review of the literature.Ingram L et al
78373911995Self-fusion of the ALL1 gene. A new genetic mechanism for acute leukemia.Schichman SA et al


François Desangles

+11 or trisomy 11 (solely) KMT2A

Atlas Genet Cytogenet Oncol Haematol. 1997-07-01

Online version: http://atlasgeneticsoncology.org/haematological/1026/+11-or-trisomy-11-(solely)