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Atlas of Genetics and Cytogenetics in Oncology and Haematology OPEN ACCESS JOURNAL AT INIST-CNRS Leukaemia Section Short Communication t(10;11)(p12;q23) Jean-Loup Huret Genetics, Department of Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France Published in Atlas Database: December 1997 Online version is available at: http://AtlasGeneticsOncology.org/Anomalies/t1011.html DOI: 10.4267/2042/32072 This work is licensed under a Creative Commons Attribution-Non-commercial-No Derivative Works 2.0 France Licence. © 1997 Atlas of Genetics and Cytogenetics in Oncology and Haematology MLL Identity Note: Not to be t(10;11)(p14;q21). confused with cases 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. of Clinics and pathology Disease ANLL. Phenotype / cell stem origin M5/M4; ALL at times, therapy related cases. Epidemiology From infants to adults. Prognosis Poor. Results of the chromosomal anomaly Hybrid gene Description 5’ MLL - 3’ AF10; variable breakpoints on both chromosomes; the fusion transcript on chromosome 11 is the crucial one; MLL and AF10 are in opposite transcriptional directions, which may be cause of the complexity of the translocation. Cytogenetics Cytogenetics, morphological A high diversity of reported breakpoints on chromosome 10, from 10p11 to 10p15: remains to be fully studied. Fusion protein inv(11)(q13q23) is frequently accompanying the t(10;11); this is likely to be related to the transcription directions of the two genes. Description N-term AT hook and DNA methyltransferase from MLL fused to the leucine zipper C-term of AF10. Expression localisation Nuclear localisation. Genes involved and Proteins References AF10 Chaplin T, Bernard O, Beverloo HB, Saha V, Hagemeijer A, Berger R, Young BD. The t(10;11) translocation in acute myeloid leukemia (M5) consistently fuses the leucine zipper motif of AF10 onto the HRX gene. Blood 1995 Sep 15;86(6):2073-6. Additional anomalies Location: 10p12 DNA / RNA 5’ telomeric → 3’ centromeric orientation. Protein Contains 3 Zn fingers and a leucine zipper; nuclear localisation; transcription factor. Atlas Genet Cytogenet Oncol Haematol. 1997;1(2) This article should be referenced as such: Huret JL. t(10;11)(p12;q23). Atlas Genet Cytogenet Oncol Haematol.1997;1(2):101. 101