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Download Leukaemia Section t(4;21)(q31;q22) Atlas of Genetics and Cytogenetics in Oncology and Haematology
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Atlas of Genetics and Cytogenetics in Oncology and Haematology OPEN ACCESS JOURNAL AT INIST-CNRS Leukaemia Section Short Communication t(4;21)(q31;q22) Jean-Loup Huret Genetics, Dept Medical Information, UMR 8125 CNRS, University of Poitiers, CHU Poitiers Hospital, F86021 Poitiers, France (JLH) Published in Atlas Database: February 2003 Online updated version: http://AtlasGeneticsOncology.org/Anomalies/t0421q31q22ID1262.html DOI: 10.4267/2042/37963 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 AML1 Clinics and pathology Location 21q22 DNA/RNA Transcription is from telomere to centromere. Protein Contains a Runt domain and, in the C-term, a transactivation domain; forms heterodimers; widely expressed; nuclear localisation; transcription factor (activator) for various hematopoietic-specific genes. Disease T-cell acute lymphoblastic leukemia (T-ALL). Epidemiology Only one case to date, a 12 year old male patient. Prognosis Unknown. Cytogenetics References Cytogenetics morphological Mathew S, Shurtleff SA, Raimondi SC. Novel cryptic, complex rearrangements involving ETV6-CBFA2 (TEL-AML1) genes identified by fluorescence in situ hybridization in pediatric patients with acute lymphoblastic leukemia. Genes Chromosomes Cancer. 2001 Oct;32(2):188-93 A del(7q) was also present in the same clone. Genes involved and proteins Note The gene in 4q31 is yet unknown, and because cryptic t(12;21) ETV6 /AML1 are not rare, it is therefore uncertain whether this translocation involve a new AML1 partner. Mikhail FM, Serry KA, Hatem N, Mourad ZI, Farawela HM, El Kaffash DM, Coignet L, Nucifora G. A new translocation that rearranges the AML1 gene in a patient with T-cell acute lymphoblastic leukemia. Cancer Genet Cytogenet. 2002 May;135(1):96-100 This article should be referenced as such: Huret JL. t(4;21)(q31;q22). Atlas Genet Cytogenet Oncol Haematol. 2003; 7(2):119. Atlas Genet Cytogenet Oncol Haematol. 2003; 7(2) 119
