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ins(5;11)(q31;q13q23) KMT2A/AFF4

Written2000-04Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
Updated2003-06Jean-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 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

Hybrid gene
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

KMT2A (11q23.3) AFF4 (5q31.1)

Mitelman databaseins(5;11)(q31;q13q23) [Case List]    ins(5;11)(q31;q13q23) [Association List] Mitelman database (CGAP - NCBI)
arrayMapTopo ( C42) Morph ( 9807/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMapTopo ( C42) Morph ( 9811/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMapTopo ( C42) Morph ( 9813/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
 
TICdbKMT2A/AFF4  KMT2A (11q23.3) AFF4 (5q31.1)
 
Disease databaseins(5;11)(q31;q13q23) KMT2A/AFF4
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed


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