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

Written2018-04Jean-Loup Huret
jean-loup.huret@atlasgeneticsoncology.org

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

Keywords Chromosome 111; Chromosome 17; KMT2A; ACACA; Acute myeloid leukemia

(Note : for Links provided by Atlas : click)

Identity

ICD-Topo C420,C421,C424
ICD-Morpho 9874/3 AML with maturation
Atlas_Id 1414

Clinics and Pathology

Disease Acute myeloid leukemia.
Phenotype / cell stem 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 NameKMT2A (myeloid/lymphoid or mixed lineage leukemia)
Location 11q23.3
Dna / Rna 37 exons, spanning about 120 kb; 13-15 mRNA
Protein 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 NameACACA (acetyl-CoA carboxylase alpha)
Location 17q11.2
Dna / Rna 60 exons, 5 splicing forms.
Protein 2383 amino acids, 265 KDa. Involed in malonyl-CoA biosynthesis (de novo fatty acid synthesis)

To be noted

Additional cases are needed to delineate the epidemiology of this rare entity:
you are welcome to submit a paper to our new Case Report section.

Bibliography

 
The MLL recombinome of acute leukemias in 2013
Meyer C, Hofmann J, Burmeister T, Gröger D, Park TS, Emerenciano M, Pombo de Oliveira M, Renneville A, Villarese P, Macintyre E, Cavé H, Clappier E, Mass-Malo K, Zuna J, Trka J, De Braekeleer E, De Braekeleer M, Oh SH, Tsaur G, Fechina L, van der Velden VH, van Dongen JJ, Delabesse E, Binato R, Silva ML, Kustanovich A, Aleinikova O, Harris MH, Lund-Aho T, Juvonen V, Heidenreich O, Vormoor J, Choi WW, Jarosova M, Kolenova A, Bueno C, Menendez P, Wehner S, Eckert C, Talmant P, Tondeur S, Lippert E, Launay E, Henry C, Ballerini P, Lapillone H, Callanan MB, Cayuela JM, Herbaux C, Cazzaniga G, Kakadiya PM, Bohlander S, Ahlmann M, Choi JR, Gameiro P, Lee DS, Krauter J, Cornillet-Lefebvre P, Te Kronnie G, Schäfer BW, Kubetzko S, Alonso CN, zur Stadt U, Sutton R, Venn NC, Izraeli S, Trakhtenbrot L, Madsen HO, Archer P, Hancock J, Cerveira N, Teixeira MR, Lo Nigro L, Möricke A, Stanulla M, Schrappe M, Sedék L, Szczepanski T, Zwaan CM, Coenen EA, van den Heuvel-Eibrink MM, Strehl S, Dworzak M, Panzer-Grümayer R, Dingermann T, Klingebiel T, Marschalek R
Leukemia 2013 Nov;27(11):2165-76
PMID 23628958
 
Diagnostic tool for the identification of MLL rearrangements including unknown partner genes.
Meyer C, Schneider B, Reichel M, Angermueller S, Strehl S, Schnittger S, Schoch C, Jansen MW, van Dongen JJ, Pieters R, Haas OA, Dingermann T, Klingebiel T, Marschalek R.
Proc Natl Acad Sci U S A. 2005 Jan 11;102(2):449-54. Epub 2004 Dec 30.
PMID 15626757
 
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, König M, Meyer C, Schneider B, Harbott J, Jäger U, von Bergh AR, Loncarevic IF, Jarosova M, Schmidt HH, Moore SD, Marschalek R, Haas OA
Genes Chromosomes Cancer 2006 Nov;45(11):1041-9
PMID 16897742
 

Citation

This paper should be referenced as such :
Jean-Loup Huret
t(11;17)(q23;q21) KMT2A/ACACA
Atlas Genet Cytogenet Oncol Haematol. 2018;22(10):457-458.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Anomalies/t1117q23q21ID1414.html


Translocations implicated (Data extracted from papers in the Atlas)

 t(11;17)(q23;q21) KMT2A/ACACA

External links

Mitelman databaset(11;17)(q23;q21) [Case List]    t(11;17)(q23;q21) [Transloc-MCList] KMT2A/ACACA [Fusion-MCList]
arrayMap (UZH-SIB Zurich)Morph ( 9874/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
 
 
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed


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