title: A novel type of EWS-CHOP fusion gene in myxoid liposarcoma.
abstract: The cytogenetic hallmark of myxoid type and round cell type liposarcoma consists of reciprocal translocation of t(12;16)(q13;p11) and t(12;22)(q13;q12), which results in fusion of TLS/FUS and CHOP, and EWS and CHOP, respectively. Nine structural variations of the TLS/FUS-CHOP chimeric transcript have been reported, however, only two types of EWS-CHOP have been described. We describe here a case of myxoid liposarcoma containing a novel EWS-CHOP chimeric transcript and identified the breakpoint occurring in intron 13 of EWS. Reverse transcription-polymerase chain reaction and direct sequence showed that exon 13 of EWS was in-frame fused to exon 2 of CHOP. Genomic analysis revealed that the breaks were located in intron 13 of EWS and intron 1 of CHOP.
authors.affiliation: Department of Orthopaedics, Osaka University Graduate School of Medicine, Japan. ymatsui@sb4.so-net.ne.jp
authors.forename: Yoshito
authors.initials: Y
authors.lastname: Matsui
authors.forename: Takafumi
authors.initials: T
authors.lastname: Ueda
authors.forename: Takahiro
authors.initials: T
authors.lastname: Kubo
authors.forename: Tadashi
authors.initials: T
authors.lastname: Hasegawa
authors.forename: Yasuhiko
authors.initials: Y
authors.lastname: Tomita
authors.forename: Mina
authors.initials: M
authors.lastname: Okamoto
authors.forename: Akira
authors.initials: A
authors.lastname: Myoui
authors.forename: Shigeki
authors.initials: S
authors.lastname: Kakunaga
authors.forename: Natsuo
authors.initials: N
authors.lastname: Yasui
authors.forename: Hideki
authors.initials: H
authors.lastname: Yoshikawa
mesh_terms: D000328:Adult; D001483:Base Sequence; D002678:Chimera / Q000235:genetics; D005260:Female; D050939:Gene Fusion / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D018208:Liposarcoma, Myxoid / Q000235:genetics*; D008969:Molecular Sequence Data; D034802:RNA-Binding Protein EWS / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction; D051742:Transcription Factor CHOP / Q000235:genetics*
chemical_list: C497249:DDIT3 protein, human; D034802:RNA-Binding Protein EWS; D051742:Transcription Factor CHOP