论文部分内容阅读
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。
Objective To investigate the feasibility of detecting SYT SSX fusion gene in paraffin-embedded tissues of synovial sarcoma by reverse transcription-polymerase chain reaction (RT-PCR). METHODS: RT-PCR was used to detect SYT SSX fusion gene transcripts in 37 formalin-fixed paraffin-embedded synovial sarcoma tissues. To investigate the specificity of the SYT SSX fusion gene for synovial sarcoma, a series of non-synovial sarcoma tumor specimens served as negative controls. Fusion gene test results were confirmed by sequencing. RESULTS: SYT SSX fusion gene was detected in 33 of 37 (89.2%) synovial sarcomas. None of the 34 non-synovial sarcoma tumor samples showed amplification of the SYT SSX fusion gene product. PBGD mRNA expression was detected in all 34 specimens. In 33 cases of SYT SSX positive synovial sarcoma, SYT SSX1 positive 2 2 cases, SYT SSX2 positive 6 cases, the remaining 5 cases can not distinguish between the fusion gene type. There was a correlation between fusion genotypes and histological subtypes. All 10 cases of bipolar synovial sarcoma were SYT SSX1 type, while all SYT SSX2 positive synovial sarcoma were single phase type (P <0 05). Conclusions Our results suggest that RT PCR technique can be used to archive formalin-fixed, paraffin-embedded tissue as a sensitive and reliable technique for synovial sarcoma diagnosis and differential diagnosis. There was a correlation between SYT SSX fusion gene types and histological subtypes. SYT SSX2 type only seen in single-phase synovial sarcoma.