title: Clear cell sarcoma expressing a novel chimerical transcript EWSR1 exon 7/ATF1 exon 6.
abstract: Clear cell sarcoma harbours recurrent translocation, resulting in EWSR1/ATF1 or less commonly EWSR1/CREB1 fusion. To date, six types of EWSR1/ATF1 fusion have been reported, of which three are in-frame and encode functional proteins. We present a reverse transcription - polymerase chain reaction analysis of a tumour near the hallux of the right foot. The sequencing of obtained fragments revealed the presence of a novel chimerical transcript-the in-frame fusion between EWSR1 exon 7 and ATF1 exon 6 that represents the fourth in-frame type of EWSR1/ATF1 fusion identified in clear cell sarcomas.
authors.affiliation: Hematology, Oncology and Transfusion Medicine Center, Vilnius University Hospital Santariskiu Klinikos, Santariskiu 2, Vilnius 08661, Lithuania.
authors.forename: Egle
authors.initials: E
authors.lastname: Gineikiene
authors.forename: Dmitrij
authors.initials: D
authors.lastname: Seinin
authors.forename: Birute
authors.initials: B
authors.lastname: Brasiuniene
authors.forename: Andrius
authors.initials: A
authors.lastname: Brazaitis
authors.forename: Laimonas
authors.initials: L
authors.lastname: Griskevicius
authors.forename: Arturas
authors.initials: A
authors.lastname: Jakubauskas
mesh_terms: D000328:Adult; D000971:Antineoplastic Combined Chemotherapy Protocols; D001859:Bone Neoplasms / Q000556:secondary; D005091:Exons / Q000235:genetics; D017809:Fatal Outcome; D006214:Hallux; D006801:Humans; D008207:Lymphatic Metastasis; D008297:Male; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction; D018227:Sarcoma, Clear Cell / Q000188:drug therapy / Q000235:genetics* / Q000556:secondary; D012983:Soft Tissue Neoplasms / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology; D014178:Translocation, Genetic
chemical_list: C560860:EWSR1-ATF1 fusion protein, human; D015514:Oncogene Proteins, Fusion