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Download Leukaemia Section ins(5;11)(q31;q13q23) Atlas of Genetics and Cytogenetics in Oncology and Haematology
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Transcript
Atlas of Genetics and Cytogenetics in Oncology and Haematology OPEN ACCESS JOURNAL AT INIST-CNRS Leukaemia Section Short Communication ins(5;11)(q31;q13q23) Jean-Loup Huret Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France (JLH) Published in Atlas Database: April 2000 Online updated version : http://AtlasGeneticsOncology.org/Anomalies/ins511ID1167.html DOI: 10.4267/2042/37619 This work is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 2.0 France Licence. © 2000 Atlas of Genetics and Cytogenetics in Oncology and Haematology Clinics and pathology Protein Present homologies with AF4. Disease MLL Acute lymphoblastic leukemia (ALL). Location 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. Phenotype/cell stem origin CD19+ Epidemiology Poorly defined: only 1 case to date. Clinics A girl aged 4 months, who entered complete remission, relapsed and died 20 months after diagnosis. Prognosis Result of the chromosomal anomaly Yet unknown, likely to be poor. Cytogenetics Hybrid gene Additional anomalies Description 5' MLL - 3' AF5q31; fusion at MLL exon 10. i(17q) Variants References A few cases of t(5;11)(q31;q23) have been described, but it is unknown if they involve the same genes. Taki T, Kano H, Taniwaki M, Sako M, Yanagisawa M, Hayashi Y. AF5q31, a newly identified AF4-related gene, is fused to MLL in infant acute lymphoblastic leukemia with ins(5;11)(q31;q13q23). Proc Natl Acad Sci U S A. 1999 Dec 7;96(25):14535-40 Genes involved and proteins AF5q31 This article should be referenced as such: Location 5q31.1 Atlas Genet Cytogenet Oncol Haematol. 2000; 4(2) Huret JL. ins(5;11)(q31;q13q23). Atlas Genet Cytogenet Oncol Haematol. 2000; 4(2):74. 74
