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Atlas of Genetics and Cytogenetics in Oncology and Haematology OPEN ACCESS JOURNAL AT INIST-CNRS Solid Tumour Section Short Communication t(4;22)(q35;q12) in embryonal rhabdomyo-sarcoma (ERMS) Jean-Loup Huret Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France (JLH) Published in Atlas Database: December 2009 Online updated version : http://AtlasGeneticsOncology.org/Tumors/t0422q35q12RhabdoID6280.html DOI: 10.4267/2042/44879 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 EWSR1 Clinics and pathology Location 22q12 Protein From N-term to C-term: a transactivation domain (TAD) containing multiple degenerate hexapeptide repeats, 3 arginine/glycine rich domains (RGG regions), a RNA recognition motif, and a RanBP2 type Zinc finger. Role in transcriptional regulation for specific genes and in mRNA splicing. Disease Rhabdomyosarcomas, the most common pediatric soft tissue sarcomas, are tumours related to the skeletal muscle lineage. The 2 major subtypes are alveolar rhabdomyosarcoma (ARMS) and embryonal rhabdomyosarcoma (ERMS). Other subtypes are botryoid, spindle cell, anaplastic, pleomorphic, and undifferentiated RMS. Most ERMS are characterized by chromosome gains and a loss of heterozygocity in 11p15. Epidemiology Result of the chromosomal anomaly Only one case to date, a 19-year-old female patient with an embryonal RMS, who was alive and well 6 years after diagnosis (Sirvent et al., 2009). Hybrid Gene Cytogenetics Description Breakpoints were located in the EWSR1 gene at 22q12 and the region of the DUX4 at 4q35. A 5' EWSR1 - 3' DUX4 hybrid gene is likely. Cytogenetics Morphological The t(4;22)(q35;q12) was the sole anomaly. Fusion Protein Genes involved and proteins Description One may speculate that the N terminal transactivation domain of EWSR1 was fused to one of the DNA binding domains of DUX4 (either the domain amino acids 19-78, or the domain aa 94-153). DUX4 Location 4q35 Protein DUX4 (double homeobox, chromosome 4) contains two homeodomains (about 60 amino acids, involved in DNA-binding), each similar in sequence to PAX3 and PAX7 homeodomains. It is a transcription factor DUX4 is involved in myogenic differentiation and cell-cycle control (Dixit et al., 2007). Atlas Genet Cytogenet Oncol Haematol. 2010; 14(10) References Dixit M, Ansseau E, Tassin A, Winokur S, Shi R, Qian H, Sauvage S, Mattéotti C, van Acker AM, Leo O, Figlewicz D, Barro M, Laoudj-Chenivesse D, Belayew A, Coppée F, Chen YW. DUX4, a candidate gene of facioscapulohumeral muscular 996 t(4;22)(q35;q12) in embryonal rhabdomyosarcoma (ERMS) Huret JL dystrophy, encodes a transcriptional activator of PITX1. Proc Natl Acad Sci U S A. 2007 Nov 13;104(46):18157-62 This article should be referenced as such: Huret JL. t(4;22)(q35;q12) in embryonal rhabdomyosarcoma (ERMS). Atlas Genet Cytogenet Oncol Haematol. 2010; 14(10):996-997. Sirvent N, Trassard M, Ebran N, Attias R, Pedeutour F. Fusion of EWSR1 with the DUX4 facioscapulohumeral muscular dystrophy region resulting from t(4;22)(q35;q12) in a case of embryonal rhabdomyosarcoma. Cancer Genet Cytogenet. 2009 Nov;195(1):12-8 Atlas Genet Cytogenet Oncol Haematol. 2010; 14(10) 997