滑膜肉瘤的融合基因检测分析

Detection and analysis of SYT-SSX fusion gene in synovial sarcoma

目的 基于存在染色体易位所致特异的SYT SSX融合基因 ,证实可在滑膜肉瘤组织石蜡切片上检测出并探讨其在诊断中的价值。方法 采用逆转录 聚合酶链反应 ,检测并分析 2 0例滑膜肉瘤 (组织学亚型 15例单相 ,5例双相 )的SYT SSX转录物 ,并对照相应病理学所见。结果 所检2 0例滑膜肉瘤中 ,有 19例 (95 %)出现特异SYT SSX逆转录聚合酶链反应产物 ,其中 13例具有SYT SSX2融合基因的肿瘤有 10例呈组织学单相分化。结论 SYT SSX融合基因转录物可在石蜡切片和组织块中获得满意结果 ,具有较好的灵敏性 ;是滑膜肉瘤所特有的诊断标志物 ,它的亚类分型 (SYT SSX1和SYT SSX2 ) ,可能作为预后推测指征。

Objective To demonstrate that a characteristic SYT-SSX fusion gene resulting from chromosomal translocation t(X;18)(p11;q11) was detectable in archival paraffin-embedded synovial sarcoma tissues. Methods SYT-SSX fusion transcripts in 20 synovial sarcomas (histologic subtypes, 15 monophasic and 5 biphasic) were detected and analyzed by the reverse-transcriptase polymerase chain reaction and compared with the results from relevant pathological data. Results A specific SYT-SSX RT-PCR product was found in 19 of 20(95%) synovial sarcomas tested and of the 13 tumors containing SYT-SSX2, 10 were monophasic. Conclusion SYT-SSX fusion transcripts are considered as a defining diagnostic marker of synovial sarcomas and the subtypes of SYT-SSX fusion transcripts (SYT-SSX1 and SYT-SSX 2 ) may yield prognostic information.