A novel type of EWS-CHOP fusion gene in myxoid liposarcoma
A novel type of EWS-CHOP fusion gene in myxoid liposarcoma
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DOI：
10.1016/j.bbrc.2006.07.085
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发表时间：
2006-09-22
影响因子：
3.1
通讯作者：
Yoshikawa, Hideki
中科院分区：
文献类型：
--
作者：
Matsui, Yoshito;Ueda, Takafumi;Yoshikawa, Hideki
粘液型和圆形细胞型脂肪肉瘤的细胞遗传学特征是t(12；16)(q13；p11)和t(12；22)(q13；q12)相互易位，分别导致TLS/FUS和CHOP融合，EWS和CHOP融合。已经报道了TLS/FUS-CHOP嵌合转录本的九种结构变异，但只有两种类型的EWS-CHOP被描述。我们在这里描述了一例粘液样脂肪肉瘤，其中包含一个新的EWS-CHOP嵌合转录本，并鉴定了发生在EWS内含子13的断裂点。逆转录-聚合酶链式反应和直接测序表明，EWS的外显子13与CHOP的外显子2在框内融合。基因组分析表明，断裂位于EWS的13号内含子和CHOP的1号内含子。(C)2006 Elsevier Inc.保留所有权利。
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. (c) 2006 Elsevier Inc. All rights reserved.