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。
Objective 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 non2synovial 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.
出处
《中华病理学杂志》
CAS
CSCD
北大核心
2008年第10期660-664,共5页
Chinese Journal of Pathology
基金
国家自然科学基金资助项目（30572097）
关键词
肉瘤
滑膜
基因融合
原位杂交
荧光
Sarcoma,synovial
Gene fusion
In situ hybridization,fluorescence
