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t(11;19)(q23;p13.3) KMT2A/ACER1

Written2009-04Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

(Note : for Links provided by Atlas : click)

Identity

ICD-Topo C420,C421,C424 BLOOD, BONE MARROW, & HEMATOPOIETIC SYS
ICD-Morpho 9811/3 B lymphoblastic leukaemia/lymphoma, NOS
Atlas_Id 1540

Clinics and Pathology

Disease Acute lymphocytic leukemia (ALL)
Epidemiology Only one case to date, a case of congenital leukemia (Lo Nigro et al., 2002).

Genes involved and Proteins

Gene NameKMT2A (myeloid/lymphoid or mixed lineage leukemia)
Location 11q23.3
Dna / Rna 36 exons, multiple transcripts 13-15 kb.
Protein 3969 amino acids; 431 kDa; contains two DNA binding motifs (a AT hook and a CXXC domain), a DNA methyl transferase motif, a bromodomain. MLL is cleaved by taspase 1 into 2 proteins before entering the nucleus, called MLL-N and MLL-C. The FYRN and a FRYC domains of native MLL associate MLL-N and MLL-C in a stable complex; they form a multiprotein complex with transcription factor TFIID. MLL is a transcriptional regulatory factor. MLL can 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.
Gene NameACER1 (alkaline ceramidase 1)
Location 19p13.3
Protein ACER1 is the alkaline ceramidase 1. Ceramidases catalyze hydrolysis of ceramide to generate sphingosine (SPH), which is phosphorylated to form sphingosine-1-phosphate (S1P). Ceramide, SPH, and S1P are bioactive lipids that mediate cell proliferation, differentiation, apoptosis, adhesion and migration (Mao and Obeid, 2008).

Result of the chromosomal anomaly

Hybrid gene
Description 5' MLL - 3' ACER1; fusion of MLL intron 8 to ACER1.
  

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

Two partner genes of MLL and additional heterogeneity in t(11;19)(q23;p13) translocations.
Lo Nigro L, Slater DJ, Rappaport EF, Biondi A, Maude S, Megnigal MD, Bungaro S, Schiliro G, Felix CA.
Blood 2002; 2080 p531a.
 
Ceramidases: regulators of cellular responses mediated by ceramide, sphingosine, and sphingosine-1-phosphate.
Mao C, Obeid LM.
Biochim Biophys Acta. 2008 Sep;1781(9):424-34. Epub 2008 Jun 13. (REVIEW)
PMID 18619555
 

Citation

This paper should be referenced as such :
Huret, JL
t(11;19)(q23;p13.3) MLL/ACER1
Atlas Genet Cytogenet Oncol Haematol. 2010;14(3):319-319.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Anomalies/t1119q23p13ID1540.html


Translocations implicated (Data extracted from papers in the Atlas)

 t(11;19)(q23;p13.3) KMT2A/ACER1

External links

Mitelman databaset(11;19)(q23;p13.3) [Case List]    t(11;19)(q23;p13.3) [Association List] Mitelman database (CGAP - NCBI)
arrayMapTopo ( C42) Morph ( 9811/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
 
 
Disease databaset(11;19)(q23;p13.3) KMT2A/ACER1
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed


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indexed on : Tue Nov 21 15:10:05 CET 2017


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For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.