Abstract
Review on t(11;17)(q23;q21), with data on clinics, and the genes involved.
Clinics and Pathology
Disease
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
Note
The breakpoint in KMT2A was in intron 11.
Gene name
KMT2A (myeloid/lymphoid or mixed lineage leukemia)
Location
11q23.3
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)
Location
17q11.2
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)
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 23628958 | 2013 | The MLL recombinome of acute leukemias in 2013. | Meyer C et al |
| 15626757 | 2005 | Diagnostic tool for the identification of MLL rearrangements including unknown partner genes. | Meyer C et al |
| 16897742 | 2006 | Molecular 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 |
Summary
Fusion gene
KMT2A/ACACA
Citation
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
