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t(11;17)(q23;p13)

Identity

Note the translocation may be hidden, and can present as a del(11)(q23)

Clinics and Pathology

Disease acute non lymphocytic leukemia (ANLL), acute lymphocytic leukemia (ALL)
Clinics poorly known: a few cases, but without ascertainement of GAS7 involvement (a gene in 17p13); they are cases of MDS in transformation, ANLL, bi-phenotypic leukemia, and ALL; one the other hand, one case of t(11;17) with MLL and GAS7 involvementshas been described: a 13-year-old boy, with a M4 treatment-related ANLL and a karyotype with an apparent del(11)(q23) (a cryptic t(11;17)(q23;p13)); four months later the patient died

Genes involved and Proteins

Gene Name MLL
Location 11q23
Dna / Rna 21 exons, spanning over 100 kb; 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
Gene Name GAS7
Location 17p13
Dna / Rna genomic sequence 167 kb; 14 exons
Protein expression in quiescent/terminally differenciated cells, especially in the brain

Result of the chromosomal anomaly

Hybrid gene
Description 5' MLL-3' GAS7; breakpoint in MLL intron 8, in MLL bcr; GAS7 breakpoint upstream of exon 1; fusion of mLL exon 7 or exon 8 to GAS7 exon 2
  

External links

Other databaset(11;17)(q23;p13) Mitelman database (CGAP - NCBI)
Other databaset(11;17)(q23;p13) CancerChromosomes (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

Ten novel 11q23 chromosomal partner sites. European 11q23 Workshop participants.
Harrison CJ, Cuneo A, Clark R, Johansson B, Lafage-Pochitaloff M, Mugneret F, Moorman AV, Secker-Walker LM
Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 1998 ; 12 (5) : 811-822.
PMID 9593286
 
Detection of leukemia-associated MLL-GAS7 translocation early during chemotherapy with DNA topoisomerase II inhibitors.
Megonigal MD, Cheung NK, Rappaport EF, Nowell PC, Wilson RB, Jones DH, Addya K, Leonard DG, Kushner BH, Williams TM, Lange BJ, Felix CA
Proceedings of the National Academy of Sciences of the United States of America. 2000 ; 97 (6) : 2814-2819.
PMID 10706619
 

Contributor(s)

Written06-2000Jean-Loup Huret

Citation

This paper should be referenced as such :
Huret JL . t(11;17)(q23;p13). Atlas Genet Cytogenet Oncol Haematol. June 2000 .
URL : http://AtlasGeneticsOncology.org/Genes/t1117ID1137.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Aug 11 21:20:49 2008


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