A novel type of EWS-CHOP fusion gene in myxoid liposarcoma.
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.
Matsui
Yoshito
Y
Department of Orthopaedics, Osaka University Graduate School of Medicine, Japan. ymatsui@sb4.so-net.ne.jp
Ueda
Takafumi
T
Kubo
Takahiro
T
Hasegawa
Tadashi
T
Tomita
Yasuhiko
Y
Okamoto
Mina
M
Myoui
Akira
A
Kakunaga
Shigeki
S
Yasui
Natsuo
N
Yoshikawa
Hideki
H
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*
C497249:DDIT3 protein, human; D034802:RNA-Binding Protein EWS; D051742:Transcription Factor CHOP