title: A novel type of EWS-CHOP fusion gene in two cases of myxoid liposarcoma.
abstract: Fusion genes consisting of TLS/FUS and CHOP or EWS and CHOP are characteristic markers for myxoid/round cell liposarcomas (MLS/RCLS). Several different structures of the fusion genes were reported in the case of the TLS/FUS-CHOP form, whereas only one type of structure has so far been found for the EWS-CHOP form, which consisted of exons 1 to 7 of the EWS and exons 2 to 4 of the CHOP gene. Here we describe a novel type of EWS-CHOP fusion gene in two cases of MLS/RCLS, which were found in a consecutive analysis of 21 cases. This fusion gene consisted of exons 1 to 10 of the EWS and exons 2 to 4 of the CHOP gene. The two cases with this fusion gene shared several clinical features, such as a large tumor mass, rapid and invasive growth, and local recurrence within 12 months after surgical resection. Histopathological findings also showed common features characterized by the diffuse proliferation of small spindle cells with a primitive mesenchymal appearance. The association of these clinical and histopathological features suggests a distinct biological property for this rare type of fusion product.
authors.affiliation: Institute for Frontier Medical Sciences, Department of Orthopedic Surgery, Faculty of Medicine, Kyoto University, Kyoto, Japan.
authors.forename: Taisuke
authors.initials: T
authors.lastname: Hosaka
authors.forename: Yasuaki
authors.initials: Y
authors.lastname: Nakashima
authors.forename: Katsuyuki
authors.initials: K
authors.lastname: Kusuzaki
authors.forename: Hiroaki
authors.initials: H
authors.lastname: Murata
authors.forename: Tomitaka
authors.initials: T
authors.lastname: Nakayama
authors.forename: Takeharu
authors.initials: T
authors.lastname: Nakamata
authors.forename: Tomoki
authors.initials: T
authors.lastname: Aoyama
authors.forename: Takeshi
authors.initials: T
authors.lastname: Okamoto
authors.forename: Kohichi
authors.initials: K
authors.lastname: Nishijo
authors.forename: Nobuhito
authors.initials: N
authors.lastname: Araki
authors.forename: Tadao
authors.initials: T
authors.lastname: Tsuboyama
authors.forename: Takashi
authors.initials: T
authors.lastname: Nakamura
authors.forename: Junya
authors.initials: J
authors.lastname: Toguchida
mesh_terms: D000293:Adolescent; D000328:Adult; D000595:Amino Acid Sequence; D019677:Artificial Gene Fusion; D001483:Base Sequence; D022762:CCAAT-Enhancer-Binding Proteins / Q000235:genetics*; D017931:DNA Primers; D004273:DNA, Neoplasm; D005260:Female; D006801:Humans; D018208:Liposarcoma, Myxoid / Q000235:genetics* / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D034802:RNA-Binding Protein EWS / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction; D051742:Transcription Factor CHOP; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D022762:CCAAT-Enhancer-Binding Proteins; C497249:DDIT3 protein, human; D017931:DNA Primers; D004273:DNA, Neoplasm; D034802:RNA-Binding Protein EWS; D014157:Transcription Factors; D051742:Transcription Factor CHOP