| Written | 2009-04 | Jean-Loup Huret |
| Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France |
| 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 Name | KMT2A (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 Name | ACER1 (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 |
| 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 |
| REVIEW articles | automatic search in PubMed |
| Last year articles | automatic search in PubMed |
| All articles | automatic search in PubMed |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Mon Sep 18 17:20:08 CEST 2017 |
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