摘要
OBJECTIVE: To assess the feasibility of detecting SYT-SSX fusion transcripts in paraffin-embedded tissues of synovial sarcoma by reverse transcription-polymerase chain reaction (RT-PCR). METHODS: RT-PCR was used to amplify the SYT-SSX fusion transcripts using archival formalin-fixed paraffin-embedded tumor specimens from a series of 37 synovial sarcoma cases. To investigate the specificity of the SYT-SSX fusion transcripts, a variety of non-synovial sarcoma tumors were included in the study as negative controls. The detected messages derived from fusion genes were confirmed by subsequent sequence analysis. RESULTS: SYT-SSX fusion transcripts were detected in 33 of 37 (89.2%) synovial sarcomas. None of the 34 cases of non-synovial sarcoma tumors showed amplified products of SYT-SSX fusion transcripts, although PBGD mRNA was detected in all specimens. Among 33 SYT-SSX-positive synovial sarcomas, 22 tumors had an SYT-SSX 1 fusion transcript, whereas 6 tumors had an SYT-SSX2 fusion transcript. Fusion types can not be distinguished in the remaining 5 cases. There was a significant relationship between SYT-SSX fusion type and histologic subtype. All 10 biphasic synovial sarcomas had the SYT-SSX1 fusion, whereas all tumors with SYT-SSX2 were of monophasic morphology (P
目的 探讨用逆转录 聚合酶链反应 (RT PCR)技术检测滑膜肉瘤石蜡包埋组织中SYT SSX融合基因的可行性。方法 我们采用RT PCR方法对 37例福尔马林固定、石蜡包埋的滑膜肉瘤组织中SYT SSX融合基因转录本进行了检测。为探讨SYT SSX融合基因对滑膜肉瘤的特异性 ,一系列非滑膜肉瘤的肿瘤标本作为阴性对照。融合基因检测结果用测序的方法进行了证实。结果 37例滑膜肉瘤中 33例 (89 2 % )可检测出SYT SSX融合基因。 34例非滑膜肉瘤的肿瘤标本中均未显示SYT SSX融合基因产物扩增信号。此 34例标本中均可检测到PBGDmRNA表达。 33例SYT SSX阳性滑膜肉瘤中 ,SYT SSX1阳性 2 2例 ,SYT SSX2阳性 6例 ,其余 5例无法区分融合基因类型。融合基因类型与组织学亚型间存在相关性。所有 10例双相型滑膜肉瘤均为SYT SSX1型 ,而所有SYT SSX2阳性滑膜肉瘤均为单相型 (P <0 0 5 )。结论 我们的结果提示 ,RT PCR技术可以用于存档的福尔马林固定、石蜡包埋组织 ,作为滑膜肉瘤诊断和鉴别诊断敏感而且可靠的技术。SYT SSX融合基因类型与组织学亚型间存在相关性。SYT SSX2型仅见于单相型滑膜肉瘤。
