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Atlas of Genetics and Cytogenetics in Oncology and Haematology OPEN ACCESS JOURNAL AT INIST-CNRS Leukaemia Section Short Communication t(13;19)(q14;p13) Jean-Loup Huret Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France (JLH) Published in Atlas Database: August 2011 Online updated version : http://AtlasGeneticsOncology.org/Anomalies/t1319q14p13ID1512.html DOI: 10.4267/2042/47270 This work is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 2.0 France Licence. © 2012 Atlas of Genetics and Cytogenetics in Oncology and Haematology cell commitment, and differentiation. Role in epithelial mesenchymal transition (review in Slattery et al., 2008). Clinics and pathology Disease B cell acute lymphoblastic leukemia (B-ALL) Note An apparently identical t(13;19)(q14;p13) has been described in 3 cases of chronic lymphocytic leukemia (CLL) (Finn et al., 1998; Merup et al., 1998; Brown et al., 1993). References Brown AG, Ross FM, Dunne EM, Steel CM, Weir-Thompson EM. Evidence for a new tumour suppressor locus (DBM) in human B-cell neoplasia telomeric to the retinoblastoma gene. Nat Genet. 1993 Jan;3(1):67-72 Finn WG, Kay NE, Kroft SH, Church S, Peterson LC. Secondary abnormalities of chromosome 6q in B-cell chronic lymphocytic leukemia: a sequential study of karyotypic instability in 51 patients. Am J Hematol. 1998 Nov;59(3):223-9 Epidemiology Only one case to date of ALL with this translocation, a 19-year-old female patient with pre-B-ALL; she achieved complete remission and (CR) was in continuing CR 10 months later, at last follow up (Barber et al., 2007). Inukai T, Inaba T, Ikushima S, Look AT. The AD1 and AD2 transactivation domains of E2A are essential for the antiapoptotic activity of the chimeric oncoprotein E2A-HLF. Mol Cell Biol. 1998 Oct;18(10):6035-43 Merup M, Jansson M, Corcoran M, Liu Y, Wu X, Rasool O, Stellan B, Hermansson M, Juliusson G, Gahrton G, Einhorn S. A FISH cosmid 'cocktail' for detection of 13q deletions in chronic lymphocytic leukaemia--comparison with cytogenetics and Southern hybridization. Leukemia. 1998 May;12(5):705-9 Genes involved and proteins Note The translocation involves TCF3 and an unknown partner. Barber KE, Harrison CJ, Broadfield ZJ, Stewart AR, Wright SL, Martineau M, Strefford JC, Moorman AV. Molecular cytogenetic characterization of TCF3 (E2A)/19p13.3 rearrangements in B-cell precursor acute lymphoblastic leukemia. Genes Chromosomes Cancer. 2007 May;46(5):47886 TCF3 Location 19p13.3 Protein The E2A gene encodes two distinct basic helix-loophelix transcription factors, E12 (ITF1) and E47 (TCF3) through alternative splicing. It forms homodimers and heterodimers with other basic helix-loop-helix transcription factors. Ubiquitously expressed during development. Role in cell growth, Atlas Genet Cytogenet Oncol Haematol. 2012; 16(1) Slattery C, Ryan MP, McMorrow T. E2A proteins: regulators of cell phenotype in normal physiology and disease. Int J Biochem Cell Biol. 2008;40(8):1431-6 This article should be referenced as such: Huret JL. t(13;19)(q14;p13). Atlas Genet Cytogenet Oncol Haematol. 2012; 16(1):48. 48