A variant of the SYT-SSX2 fusion gene in a case of synovial sarcoma
A variant of the SYT-SSX2 fusion gene in a case of synovial sarcoma
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DOI：
10.1016/j.cancergencyto.2005.11.012
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发表时间：
2006-05-01
影响因子：
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通讯作者：
Toguchida, Junya
中科院分区：
文献类型：
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作者：
Otsuka, Seiji;Nishijo, Koichi;Toguchida, Junya
滑膜肉瘤是一种含有肿瘤特异性融合基因SYT-SSX的恶性软组织肿瘤，其中SYT基因的第10外显子与SSX基因的第6外显子融合是常见形式。在这里，我们报告了一例滑膜肉瘤的新形式的SYT-SSX2融合转录物，其中75个碱基插入在共同融合接点。计算机分析显示，15个碱基来自SYT基因的内含子10,10个来自内含子4的末端，50个来自SSX2基因的外显子5。对SYT和SSX2基因座的基因组断点的精确分析显示，产生融合基因的相互易位与两个基因座的大量缺失有关。SYT-SSX2的结构表明，在这种情况下，融合转录物是通过基因组融合点上游15个碱基的隐剪接受体位点创建的，结合了成熟mRNA中的内含子序列。对先前报道的两个SYT-SSX2基因变体的重新检查显示，插入在共同连接点的未知序列来自内含子序列，正如本病例所述。(c) 2006爱思唯尔公司版权所有。
Synovial sarcoma is a malignant soft tissue tumor harboring a tumor-specific fusion gene, SYT-SSX, of which exon 10 of the SYT gene is fused to exon 6 of the SSX gene is the common form. Here we report a case of synovial sarcoma with a novel form of the SYT-SSX2 fusion transcript, in which 75 bases were inserted at the common fusion junction. Computer analyses revealed that 15 bases were from intron 10 of the SYT gene, and 10 from the end of intron 4, and 50 from exon 5 of the SSX2 gene. Precise analyses of genomic breakpoints in SYT and SSX2 loci revealed that the reciprocal translocation creating the fusion gene was associated with a large deletion in both loci. The structure of SYT-SSX2 suggests that the fusion transcript in this case was created using a cryptic splicing acceptor site 15 bases upstream of the genomic fusion point, incorporating intronic sequences in mature mRNA. Reexamination of two variant SYT-SSX2 genes reported previously revealed that unknown sequences inserted at the common junction points were derived from intron sequences, as in the present case. (c) 2006 Elsevier Inc. All rights reserved.