| Written | 2000-04 | Jean-Loup Huret |
| Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France | ||
| Updated | 2003-06 | 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 | 9807/3 Mixed phenotype acute leukaemia with t(v;11q23); MLL rearranged |
| ICD-Morpho | 9811/3 B lymphoblastic leukaemia/lymphoma, NOS |
| ICD-Morpho | 9813/3 B lymphoblastic leukaemia/lymphoma with t(v;11q23); MLL rearranged |
| Atlas_Id | 1167 |
| Clinics and Pathology |
| Disease | acute lymphoblastic leukemia (ALL) and ALL evolving towards a M4- acute non lymphocytic leykemia (AML) |
| 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 | AFF4 |
| Location | 5q31.1 |
| Protein | present homologies with AF4 |
| Gene Name | KMT2A |
| 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 |
| 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 |
| 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 |
| 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 |
| Citation |
| This paper should be referenced as such : |
| Huret, JL |
| ins(5;11)(q31;q13q23) |
| Atlas Genet Cytogenet Oncol Haematol. 2003;7(3):181-182. |
| Free journal version : [ pdf ] [ DOI ] |
| On line version : http://AtlasGeneticsOncology.org/Anomalies/ins511ID1167.html |
| History of this paper: |
| Huret, JL. ins(5;11)(q31;q13q23). Atlas Genet Cytogenet Oncol Haematol. 2000;4(2):74-74. |
| http://documents.irevues.inist.fr/bitstream/handle/2042/37619/04-2000-ins511ID1167.pdf |
| Other genes implicated (Data extracted from papers in the Atlas) [ 2 ] |
| Genes | AFF4 | KMT2A |
| Translocations implicated (Data extracted from papers in the Atlas) |
| ins(5;11)(q31;q13q23) KMT2A/AFF4 | |
| 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 : Fri Jun 30 11:22:23 CEST 2017 |
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