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Atlas of Genetics and Cytogenetics in Oncology and Haematology OPEN ACCESS JOURNAL AT INIST-CNRS Leukaemia Section Short Communication t(14;21)(q11;q22) Jacques Boyer Laboratoire d'Hématologie, CH du MANS, France (JB) Published in Atlas Database: November 2004 Online updated version : http://AtlasGeneticsOncology.org/Anomalies/t1421q11q22ID1180.html DOI: 10.4267/2042/38155 This work is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 2.0 France Licence. © 2005 Atlas of Genetics and Cytogenetics in Oncology and Haematology Note Alias OLIG2. DNA/RNA This gene maps within a 9 to 12 Mb region of chromosome 21q22. Protein This gene was shown to possess a helix-loop-helix (bHLH) motif witch inhibits the E2A function in transfection assays. E2A is required for normal T-cell differentiation. Clinics and pathology Disease T-cell Acute lymphoblastic leukemia (T-ALL) Epidemiology Rare. Clinics One case reported: The patient was a 7-years-old female with high white blood count with lymphoblasts positive for T-cell antigens; cerebrospinal fluid negative for malignant cells; superior mediastinal mass. Result of the chromosomal anomaly Prognosis The patient attained a complete remission with standard chemotherapy but relapsed and died after 4 months of therapy. Hybrid gene Note Translocation of the BHLHB1 gene 130kb upstream of the TCRA enhancer. This translocation activates the BHLHB1 gene and produces high levels of BHLHB1 mRNA. Expression of HLHB1 inhibits E2A-mediated transcription activation in vitro. Cytogenetics Cytogenetics morphological The t(14;21)(q11.2;q22) was accompanied with del(6)(q21). Cryptic t(14;21) translocation cases may exist. Fusion protein Note No fusion protein. Oncogenesis Several helix-loop-helix (HLH) proteins are proposed to function as transcriptionnal regulatory factors based on their ability to bind in vitro the E-box motif of transcriptional enhancers. The observation that ectopic BHLHB1 expression can inhibit E2A activity suggests that BHLHB1 exerts its leukemogenic effects through a functional inhibition of E2A. Genes involved and proteins TCRA Location 14q11.2 Protein T cell receptor. BHLHB1 Location 21q22 Atlas Genet Cytogenet Oncol Haematol. 2005; 9(1) 26 t(14;21)(q11;q22) Boyer J References development and to rapid development of T-cell lymphomas. Mol Cell Biol. 1997 Aug;17(8):4782-91 Whitlock JA, Raimondi SC, Harbott J, Morris SW, McCurley TL, Hansen-Hagge TE, Ludwig WD, Weimann G, Bartram CR. t(5;14)(q33-34;q11), a new recurring cytogenetic abnormality in childhood acute leukemia. Leukemia. 1994 Sep;8(9):1539-43 Wang J, Jani-Sait SN, Escalon EA, Carroll AJ, de Jong PJ, Kirsch IR, Aplan PD. The t(14;21)(q11.2;q22) chromosomal translocation associated with T-cell acute lymphoblastic leukemia activates the BHLHB1 gene. Proc Natl Acad Sci U S A. 2000 Mar 28;97(7):3497-502 Cytogenetic abnormalities in adult acute lymphoblastic leukemia: correlations with hematologic findings outcome. A Collaborative Study of the Group Français de Cytogénétique Hématologique. Blood. 1996 Apr 15;87(8):3135-42 This article should be referenced as such: Boyer J. t(14 ;21)(q11;q22). Atlas Genet Cytogenet Oncol Haematol. 2005; 9(1):26-27. Bain G, Engel I, Robanus Maandag EC, te Riele HP, Voland JR, Sharp LL, Chun J, Huey B, Pinkel D, Murre C. E2A deficiency leads to abnormalities in alphabeta T-cell Atlas Genet Cytogenet Oncol Haematol. 2005; 9(1) 27