t(11;17)(q23;q21) KMT2A/ACACA

2018-04-01   Jean-Loup Huret 



Review on t(11;17)(q23;q21), with data on clinics, and the genes involved.

Clinics and Pathology


Acute myeloid leukemia.

Phenotype stem cell origin

Only one case to date, a 10.6 year old boy with acute myeloblastic leukemia with maturation (FAB type M2) (Meyer et al., 2005; Strehl et al., 2006; Meyer et al., 2013).

Genes Involved and Proteins

The breakpoint in KMT2A was in intron 11.
Gene name
KMT2A (myeloid/lymphoid or mixed lineage leukemia)
Dna rna description
37 exons, spanning about 120 kb; 13-15 mRNA
Protein description
3969 amino acids, 431 kDa; Transcriptional regulatory factor. MLL is known to be associated with more than 30 proteins, including the core components of the SWI/SNF chromatin remodeling complex and the transcription complex TFIID. MLL binds promotors of HOX genes through acetylation and methylation of histones. MLL is a major regulator of hematopoesis and embryonic development, through regulation of HOX genes expression regulation ( HOXA9 in particular).
Gene name
ACACA (acetyl-CoA carboxylase alpha)
Dna rna description
60 exons, 5 splicing forms.
Protein description
2383 amino acids, 265 KDa. Involed in malonyl-CoA biosynthesis (de novo fatty acid synthesis)


Pubmed IDLast YearTitleAuthors
236289582013The MLL recombinome of acute leukemias in 2013.Meyer C et al
156267572005Diagnostic tool for the identification of MLL rearrangements including unknown partner genes.Meyer C et al
168977422006Molecular dissection of t(11;17) in acute myeloid leukemia reveals a variety of gene fusions with heterogeneous fusion transcripts and multiple splice variants.Strehl S et al


Fusion gene



Jean-Loup Huret

t(11;17)(q23;q21) KMT2A/ACACA

Atlas Genet Cytogenet Oncol Haematol. 2018-04-01

Online version: http://atlasgeneticsoncology.org/haematological/1414/t(11;17)(q23;q21)