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Atlas of Genetics and Cytogenetics in Oncology and Haematology OPEN ACCESS JOURNAL AT INIST-CNRS Leukaemia Section Short Communication t(X;21)(q26;q22) Jean-Loup Huret Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France (JLH) Published in Atlas Database: November 2008 Online updated version : http://AtlasGeneticsOncology.org/Anomalies/t0X21q26q22ID1442.html DOI: 10.4267/2042/44592 This work is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 2.0 France Licence. © 2009 Atlas of Genetics and Cytogenetics in Oncology and Haematology ERG Clinics and pathology Epidemiology Location: 21q22.2 Protein Transcription factor, expressed during endothelial and hematopoietic developments. One case so far, a 56-year-old female patient with a prior history of polycythemia vera treated with hydroxyurea. Result of the chromosomal anomaly Evolution Hybrid gene The patient achieved complete remission, relapsed, have had a bone marrow transplantation, relapsed again and died. Description 5' ELF4 - 3' ERG. The reciprocal transcript was not detected. Prognosis Fusion protein The patient died shortly (6 months) after the discovery of the t(X;21) clone. However, it is likely that this clone developped at onset of the AML, 39 months before death. Description The fusion protein includes the first 25 amino acids from ELF4, encoded by exon 2, and the last 470 amino acids from ERG (exons 2 to 10). The fusion protein contains the SAM-PNT and ETS domains from ERG. Disease Acute myeloid leukaemia (AML) Cytogenetics References Additional anomalies Lacorazza HD, Yamada T, Liu Y, Miyata Y, Sivina M, Nunes J, Nimer SD. The transcription factor MEF/ELF4 regulates the quiescence of primitive hematopoietic cells. Cancer Cell. 2006 Mar;9(3):175-87 The t(X;21) was the sole anomaly. Genes involved and proteins ELF4 Moore SD, Offor O, Ferry JA, Amrein PC, Morton CC, Dal Cin P. ELF4 is fused to ERG in a case of acute myeloid leukemia with a t(X;21)(q25-26;q22). Leuk Res. 2006 Aug;30(8):1037-42 Location: Xq25 Protein Sequence specific transcription factor. Interacts with RUNX1. Regulates many genes expression. Expressed during primitive hematopoietic proliferation. Atlas Genet Cytogenet Oncol Haematol. 2009; 13(10) This article should be referenced as such: Huret JL. t(X;21)(q26;q22). Atlas Genet Cytogenet Oncol Haematol. 2009; 13(10):748. 748