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目的 检测中国人尤文肉瘤中融合基因EWS-FLI1/ERG和滑膜肉瘤中融合基因SYTSSX1/SSX2在mRNA水平的表达,在基因组DNA水平检测尤文肉瘤中EWS基因重排,为建立骨与软组织肉瘤分子诊断方法打下基础。方法 对4例尤文肉瘤、1例小圆细胞肉瘤和4例滑膜肉瘤的标本,应用RT-PCR方法检测其各自的融合基因表达;对3例尤文肉瘤和1例小圆细胞肉瘤应用Southem blot方法检测EWS基因的重排。结果 4例尤文肉瘤中,3例表达EWS-FLI1基因融合,1例未检测到融合基因表达;1例小圆细胞肉瘤检测到EWS-FLI1基因融合;4例滑膜肉瘤中,1例表达SYT-SSX1基因融合,2例表达SYT-SSX2融合基因,1例未发现融合基因表达。2例尤文肉瘤和1例小圆细胞肉瘤有EWS基因重排。结论 在mRNA水平,中国人尤文肉瘤有特异性融合基因EWS-FLI1表达,滑膜肉瘤有特异融合基因SYT-SSX1/SSX2表达;在基因组DNA水平,尤文肉瘤有EWS基因重排。RT-PCR是一项相对简单、快速、准确、成功率高的分子诊断方法,可应用于肿瘤的诊断与鉴别诊断。
Objective To detect the expression of fusion gene SYTSSX1 / SSX2 in Chinese Ewing’s sarcoma fusion gene EWS-FLI1 / ERG and synovial sarcoma, and to detect the EWS gene rearrangement in Ewing’s sarcoma at genomic DNA level. To establish bone and soft tissue sarcoma molecular Diagnostic methods lay the foundation. Methods Four specimens of Ewing’s sarcoma, 1 case of small cell sarcoma and 4 cases of synovial sarcoma were detected by RT-PCR. The expression of fusion gene was detected by RT-PCR. Southem blot was performed on 3 cases of Ewing’s sarcoma and 1 case of small cell sarcoma Methods To detect rearrangements of EWS genes. Results In 4 cases of Ewing’s sarcoma, 3 cases expressed EWS-FLI1 gene fusion, 1 case did not detect fusion gene expression; 1 case of small cell sarcoma detected EWS-FLI1 gene fusion; 4 cases of synovial sarcoma, 1 case expressed SYT -SSX1 gene fusion, 2 cases expressed SYT-SSX2 fusion gene, 1 case did not find fusion gene expression. Two Ewing sarcomas and one case of small cell sarcoma had EWS gene rearrangements. Conclusions At the mRNA level, Ewing’s sarcoma has a specific fusion gene EWS-FLI1 expression, synovial sarcoma has a specific fusion gene SYT-SSX1 / SSX2 expression; at the level of genomic DNA, Ewing’s sarcoma has EWS gene rearrangement. RT-PCR is a relatively simple, rapid, accurate, high success rate of molecular diagnostic methods can be applied to the diagnosis and differential diagnosis of tumors.