A novel type of EWS-CHOP fusion gene in two cases of myxoid liposarcoma.
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.
Hosaka
Taisuke
T
Institute for Frontier Medical Sciences, Department of Orthopedic Surgery, Faculty of Medicine, Kyoto University, Kyoto, Japan.
Nakashima
Yasuaki
Y
Kusuzaki
Katsuyuki
K
Murata
Hiroaki
H
Nakayama
Tomitaka
T
Nakamata
Takeharu
T
Aoyama
Tomoki
T
Okamoto
Takeshi
T
Nishijo
Kohichi
K
Araki
Nobuhito
N
Tsuboyama
Tadao
T
Nakamura
Takashi
T
Toguchida
Junya
J
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*
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