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Download Leukaemia Section t(7;14)(q21;q32) ERVWE1/IgH 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(7;14)(q21;q32) ERVWE1/IgH Jean-Loup Huret Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France (JLH) Published in Atlas Database: February 2009 Online updated version: http://AtlasGeneticsOncology.org/Anomalies/t0714q21q32ID1346.html DOI: 10.4267/2042/44669 This work is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 2.0 France Licence. © 2010 Atlas of Genetics and Cytogenetics in Oncology and Haematology Identity and may exert an anti-apoptotic function (Gimenez and Mallet, 2007). Note This translocation must not be confused with the t(7;14)(q21;q32) with CDK6/IgH involvement, seen in chronic lymphocytic leukaemia and in splenic marginal zone lymphoma (Corcoran et al., 1999; Hayette et al., 2003). There is also a case of acute myeloid leukaemia with t(7;14)(q21;q32) in a female patient, with no other data (Stephenson et al., 1995). IGH Location 14q32.33 Protein Immunoglobulin heavy chain (see Lefranc, 2003). Clinics and pathology Result of the chromosomal anomaly Disease Hybrid gene Cytogenetics morphological Description Chromosome junction between the switch region of the Cµ locus of IGH and the 5' upstream the 5' LTR (long terminal repeat) of ERVWE1 (94 bases upstream). However, the CDK6 gene lies 127 kb downstream ERVWE1, and it cannot be excluded that the target of the Immunoglobulin enhancer is CDK6 instead of ERVWE1 (ERVWE1 is from 91 935 631 to 91 945 186, and CDK6 from 92 072 173 to 92 303 877). Sole anomaly. Fusion protein Genes involved and proteins Oncogenesis There is not yet any clear explanation on the oncogenic process caused by this translocation. Chronic lymphocytic leukaemia (CLL) Epidemiology One case to date, a 64-year-old female patient (Wahbi et al., 1997). Cytogenetics ERVWE1 Location 7q21.2 Note Full-length provirus integrated into the human genome. References Stephenson J, Lizhen H, Mufti GJ. Possible co-existence of RAS activation and monosomy 7 in the leukaemic transformation of myelodysplastic syndromes. Leuk Res. 1995 Oct;19(10):741-8 Protein ERVWE1 encodes a glycosylated envelope protein, Syncytin-1 with a receptor-binding function; it promotes cell proliferation in the presence of TGF-beta Atlas Genet Cytogenet Oncol Haematol. 2010; 14(1) Wahbi K, Hayette S, Callanan M, Gadoux M, Charrin C, Magaud JP, Rimokh R. Involvement of a human endogenous retroviral sequence (THE-7) in a t(7;14)(q21;q32) chromosomal translocation associated with a B cell chronic lymphocytic leukemia. Leukemia. 1997 Aug;11(8):1214-9 73 t(7;14)(q21;q32) ERVWE1/IgH Huret JL Corcoran MM, Mould SJ, Orchard JA, Ibbotson RE, Chapman RM, Boright AP, Platt C, Tsui LC, Scherer SW, Oscier DG. Dysregulation of cyclin dependent kinase 6 expression in splenic marginal zone lymphoma through chromosome 7q translocations. Oncogene. 1999 Nov 4;18(46):6271-7 Lefranc MP.. IGH (Immunoglobulin Heavy). Atlas Genet Cytogenet Oncol Haematol. September 2003 http://AtlasGeneticsOncology.org/Genes/IgHID40.html Gimenez J, Mallet F.. ERVWE1 (Endogenous Retroviral family W, Env(C7), member 1). Atlas Genet Cytogenet Oncol. Haematol. September 2007 http://AtlasGeneticsOncology.org/Genes/ERVWE1ID40497ch7 q21.html Hayette S, Tigaud I, Callet-Bauchu E, Ffrench M, Gazzo S, Wahbi K, Callanan M, Felman P, Dumontet C, Magaud JP, Rimokh R. In B-cell chronic lymphocytic leukemias, 7q21 translocations lead to overexpression of the CDK6 gene. Blood. 2003 Aug 15;102(4):1549-50 This article should be referenced as such: Huret JL. t(7;14)(q21;q32) ERVWE1/IgH. Cytogenet Oncol Haematol. 2010; 14(1):73-74. Atlas Genet Cytogenet Oncol Haematol. 2010; 14(1) 74 Atlas Genet