Written | 2003-06 | Jean-Loup Huret |
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France |
This article is an update of : |
2000-04 | 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 | 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 (ALL1 fused gene from chromosome 5q31) |
Location | 5q31.1 |
Protein | present homologies with AF4 |
Gene Name | KMT2A (myeloid/lymphoid or mixed lineage leukemia) |
Location | 11q23.3 |
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 |
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