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目的检测滑膜肉瘤新鲜冰冻标本中的SYT-SSX融合基因,分析融合基因亚型与病理表型之间的关系。方法取19例2000年6月至2004年9月间在我院诊断为滑膜肉瘤新鲜冰冻标本,提取组织RNA,应用RT-PCR检测标本中SYT-SSX融合基因,明确不同融合基因亚型所占的比例;再次确认各病例的病理诊断及病理表型,分析融合基因亚型与病理表型之间的关系。结果15例(79%)标本含有SYT-SSX融合基因,其中11例为SYT-SSX1,4例为SYT-SSX2,后者中1例为罕见的SYT-SSX2变异类型。未发现其他融合基因亚型。经再次病理组织学确认,15例被确诊为滑膜肉瘤,其中双向分化型4例,单向分化型10例,分化差型1例。确诊为滑膜肉瘤的15例标本均检测到SYT-SSX融合基因。SYT-SSX2仅见于单向分化型和分化差型的病例。结论应用RT-PCR检测SYT-SSX融合基因对诊断滑膜肉瘤具有高度的敏感性及特异性。保留新鲜冰冻标本,应用恰当的引物检测融合基因,对滑膜肉瘤的基础及临床研究均具有重要意义。
Objective To detect the SYT-SSX fusion gene in fresh frozen specimens of synovial sarcoma and analyze the relationship between the fusion subtypes and pathological phenotypes. Methods Twenty-nine fresh frozen specimens of synovial sarcoma were diagnosed in our hospital from June 2000 to September 2004, RNA of tissues was extracted. RT-PCR was used to detect the SYT-SSX fusion gene in the specimens, and the different fusion gene subtypes Accounting for the proportion of re-confirmed the pathological diagnosis of each case and pathological phenotype, analysis of fusion gene subtypes and the relationship between the pathological phenotype. Results Fifteen (79%) specimens contained the SYT-SSX fusion gene, of which 11 were SYT-SSX1 and 4 were SYT-SSX2, while the latter 1 was a rare type of SYT-SSX2 mutation. No other fusion gene subtypes were found. After re-histopathological confirmation, 15 cases were diagnosed as synovial sarcoma, including 4 cases of bi-directional differentiation, unidirectional differentiation in 10 cases, 1 case of poor differentiation. SYT-SSX fusion gene was detected in all 15 specimens of synovial sarcoma. SYT-SSX2 is only seen in unidirectional and poorly differentiated cases. Conclusion The detection of SYT-SSX fusion gene by RT-PCR is highly sensitive and specific for the diagnosis of synovial sarcoma. Keep fresh frozen specimens, the application of appropriate primers to detect the fusion gene, the basic and clinical research of synovial sarcoma are of great significance.