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荧光原位杂交检测石蜡包埋滑膜肉瘤组织中染色体易位的临床病理学意义 被引量:11

Detection of chromosomal aberration in paraffin-embedded synovial sarcoma tissues by fluorescence in-situ hybridization
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摘要 目的探讨荧光原位杂交(FISH)方法在石蜡包埋滑膜肉瘤组织中检测染色体易位的可行性及其在临床病理学中的应用价值。方法收集42例滑膜肉瘤,采用 LSI SYT(18q11.2)双色分离型探针在石蜡切片上与瘤细胞进行杂交,所有病例同时行逆转录-聚合酶链反应(RT-PCR)检测SYT-SSX 融合基因及其亚型,另以9例其他类型的软组织肿瘤作为阴性对照。结果 FISH 显示,42例中37例(88.1%)于胞核内可见清晰的荧光信号,其中33例(78.5%)显示 SYT 基因易位。RT-PCR 法的检出率为83.8%(35/42),两者的联合检出率为92.9%(39/42)。FISH 和 RT-PCR 的检测结果密切相关。结论 FISH 可应用于石蜡包埋的存档组织,FISH 较 RT-PCR 方法操作更为简便省时,敏感性和特异性均较高。由于 FISH 的实验成本可以有效控制,又节省劳动力成本,因而可以在软组织肿瘤的临床病理诊断和研究工作中应用。 Objective To evaluate the application of fluorescence in-situ hybridization (FISH) in detection of gene translocation in paraffin-embedded tissue samples of synovial sarcoma. Methods Interphase FISH was carried out in paraffin-embedded tissue of 42 cases of synovial sarcoma and 9 cases of non-synovial sarcoma, using a LSI SYT (18q11.2) dual color break-apart probe. In all of the cases studied, the gene fusion product SYT-SSX was also analyzed by reverse transcription-polymerase chain reaction (RT-PCR). Results Positive signals were detected in 37 cases ( 88. 1% ) of synovial sarcoma by FISH, as compared with 35 cases (83.8%) by RT-PCR and 39 cases (92.9%) by both techniques. Of the 39 positive cases, 33 cases (78. 5% ) revealed SYT gene translocation. Conclusions FISH may serve as an adjunctive diagnostic tool in problematic cases of synovial sarcoma and can be applied in paraffinembedded tissue samples. As compared with RT-PCR, is less labor intensive and time consuming. FISH has FISH is also sensitive and reliable. The methodology great potential in molecular diagnosis of soft tissue
出处 《中华病理学杂志》 CAS CSCD 北大核心 2007年第9期577-581,共5页 Chinese Journal of Pathology
关键词 软组织肿瘤 肉瘤 滑膜 原位杂交 荧光 Soft tissue neoplasms Sarcoma,synovial In situ hybridization,fluorescence
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