| Clinics and Pathology |
| Disease | acute lymphoblastic leukemia (ALL) and ALL evolving towards a M4- acute non lymphocytic leykemia (ANLL) |
| Phenotype / cell stem origin | CD19+ |
| Epidemiology | poorly defined: only 2 cases to date |
| Clinics | a girl aged 4 mths, who entered complete remission, relapsed and died 20 mths after diagnosis, and a 3 mth old boy who had a 18 mths remission, developped relapses and died. |
| Prognosis | yet unknown, likely to be poor |
| Cytogenetics |
| Cytogenetics Morphological | the chromosomal rearrangement may be hidden if only a small portion of chromosome 11 (with MLL) is transferred into chromosome 5 (in the vicinity of AF5Q31) |
| Cytogenetics Molecular | the use of MLL probes can uncover the anomaly |
| Additional anomalies | i(17q) in one case, and a complex karyotype in the other case |
| Variants | a few cases of t(5;11)(q31;q23) have been described, but it is unknown if they involve the same genes |
| Genes involved and Proteins |
| Gene Name | AF5q31 |
| Location | 5q31.1 |
| Protein | present homologies with AF4 |
| Gene Name | MLL |
| Location | in 11q23 |
| Dna / Rna | 13-15 kb mRNA |
| Protein | 431 kDa; contains two DNA binding motifs (a AT hook, and Zinc fingers), a DNA methyl transferase motif, a bromodomain; transcriptional regulatory factor; nuclear localisation |
| Result of the chromosomal anomaly |
| Description | 5' MLL- 3' AF5q31 |
| External links |
| Other database | ins(5;11)(q31;q13q23) | Mitelman database (CGAP - NCBI) |
| 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 |
| AF5q31, a newly identified AF4-related gene, is fused to MLL in infant acute lymphoblastic leukemia with ins(5;11)(q31;q13q23). |
| Taki T, Kano H, Taniwaki M, Sako M, Yanagisawa M, Hayashi Y |
| Proceedings of the National Academy of Sciences of the United States of America. 1999 ; 96 (25) : 14535-14540. |
| PMID 10588740 |
| Insertion of MLL sequences into chromosome band 5q31 results in an MLL-AF5Q31 fusion and is a rare but recurrent abnormality associated with infant leukemia. |
| Deveney R, Chervinsky DS, Jani-Sait SN, Grossi M, Aplan PD |
| Genes, chromosomes & cancer. 2003 ; 37 (3) : 326-331. |
| PMID 12759932 |
| Contributor(s) |
| Written | 04-2000 | Jean-Loup Huret |
| Updated | 06-2003 | Jean-Loup Huret |
| Citation |
| This paper should be referenced as such : |
| Huret JL . ins(5;11)(q31;q13q23). Atlas Genet Cytogenet Oncol Haematol. April 2000 . URL : http://AtlasGeneticsOncology.org/Genes/ins511ID1167.html |
| Huret JL . ins(5;11)(q31;q13q23). Atlas Genet Cytogenet Oncol Haematol. June 2003 . URL : http://AtlasGeneticsOncology.org/Genes/ins511ID1167.html |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Sat Dec 6 18:01:55 2008 |
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