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Download Leukaemia Section t(1;12)(p36;p13) 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 t(1;12)(p36;p13) Jean-Loup Huret Genetics, Dept Medical Information, UMR 8125 CNRS, University of Poitiers, CHU Poitiers Hospital, F86021 Poitiers, France (JLH) Published in Atlas Database: July 2003 Online updated version: http://AtlasGeneticsOncology.org/Anomalies/t0112p36p13ID1170.html DOI: 10.4267/2042/37992 This work is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 2.0 France Licence. © 2003 Atlas of Genetics and Cytogenetics in Oncology and Haematology Clinics and pathology Result of the chromosomal anomaly Disease Myeloid disorders: one chronic myelogenous leukemia with t(9;22) and one refractory anemiia with excee of blasts in transformation. Hybrid gene Description 5' ETV6 - 3' MDS2; exons 1 and 2 of ETV6 are fused to exons 6 and 7 of MDS2; fusion is not in frame; the reciprocal fusion gene is not expressed. Epidemiology Only 2 cases so far: 1 male and 1 female patient aged 50 and 66 yrs. Fusion protein Prognosis Description Truncated ETV6 lacking the PTN domain and the DNA binding domain. Unknown so far. Genes involved and proteins To be noted MDS2 Case Report A Case of Myelodysplastic Translocation t(1;12)(p36;p13) Location 1p36 DNA/RNA 7 exons; alternate splicing. Syndrome with a References ETV6 Vassallo J, Altemani AM, Cardinalli IA, Crespo AN, Lima CS, Eid KA, Souza CA. Granulocytic sarcoma of the larynx preceding chronic myeloid leukemia. Pathol Res Pract. 1993 Nov;189(9):1084-6; discussion 1086-9 Location 12p13 DNA/RNA 9 exons; alternate splicing. Protein Contains a Helix-Loop-Helix and ETS DNA binding domains; wide expression; nuclear localisation; ETSrelated transcription factor. Odero MD, Vizmanos JL, Román JP, Lahortiga I, Panizo C, Calasanz MJ, Zeleznik-Le NJ, Rowley JD, Novo FJ. A novel gene, MDS2, is fused to ETV6/TEL in a t(1;12)(p36.1;p13) in a patient with myelodysplastic syndrome. Genes Chromosomes Cancer. 2002 Sep;35(1):11-9 This article should be referenced as such: Huret JL. t(1;12)(p36;p13). Atlas Genet Cytogenet Oncol Haematol. 2003; 7(3):186. Atlas Genet Cytogenet Oncol Haematol. 2003; 7(3) 186
