摘要目的 建立SYT-SSX融合基因的荧光原位杂交(FISH)检测和评估方法,并探讨其对于滑膜肉瘤的诊断价值.方法 将62例确诊滑膜肉瘤、60例非滑膜肉瘤与133例可疑滑膜肉瘤做成组织芯片,应用FISH技术检测这些病例中的SYT-SSX融合基因,并将FISH结果与以前研究中的逆转录-聚合酶链反应(RT-PCR)结果比较.结果 96.9%(247/255)的病例能够进行FISH分析.FISH对确诊滑膜肉瘤诊断的灵敏度为96.7%(58/60),排除非滑膜肉瘤诊断的特异度为100%(59/59).另外,78.1%(100/128)的可疑滑膜肉瘤经FISH检测为SYT-SSX阳性.在可疑滑膜肉瘤中,FISH与RT-PCR结果的一致率为83.6%(102/122),79.7%(106/133)经RT-PCR或FISH证实为SYT-SSX阳性.结论 应用FISH技术检测SYT-SSX融合基因具有高度的灵敏度和特异度.FISH与RT-PCR结果可以互相证实、互相补充,有助于滑膜肉瘤疑难病例的诊断.

abstractsObjective To establish a method of SYT-SSX fusion gene detection by FISH and to explore its diagnostic value for synovial sarcoma. Methods The presence of SYT-SSX fusion gene was determined by FISH using a tissue microarray containing 62 known synovial sarcomas, 60 non-synovial sarcomas and 133 equivocal synovial sarcomas. FISH results were compared with those of RT-PCR published previously. Results Overall, 96.9% (247/255) of the cases were successfully analyzed by FISH. The sensitivity of FISH for known synovial sarcomas was 96.7% (58/60), and the specificity for the non-synovial sarcoma was 100% (59/59). Moreover, SYT-SSX gene fusion was detected in 78.1% (100/128) of the equivocal synovial sarcomas. The concordance rate between FISH and RT-PCR was 83.6% (102/122)in those equivocal synovial sarcomas, and overall 79.7% (106/133) of these cases were confirmed as synovial sarcomas either by RT-PCR or by FISH. Conclusions The sensitivity and specificity of FISH detection of SYT-SSX fusion gene are high. FISH and RT-PCR are complementary to each other in the confirmation of synovial sarcomas, particularly those questionable cases.