荧光原位杂交检测SYT-SSX融合基因对滑膜肉瘤的诊断价值

[Diagnostic value of SYT-SSX fusion gene detection by fluorescence in-situ hybridization for synovial sarcoma].

作者信息

Sun Yan, Sun Bao-Cun, Liu Yan-Xue, Zhang Shi-Wu, Zhao Xiu-Lan, Wang Jian, Hao Xi-Shan

机构信息

Department of Pathology, Tianjin Cancer Hospital, Tianjin 300060, China.

出版信息

Zhonghua Bing Li Xue Za Zhi. 2008 Oct;37(10):660-4.

PMID:19094483

Abstract

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 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.

摘要

目的

建立荧光原位杂交（FISH）检测SYT-SSX融合基因的方法，并探讨其对滑膜肉瘤的诊断价值。

方法

使用包含62例已知滑膜肉瘤、60例非滑膜肉瘤和133例疑似滑膜肉瘤的组织芯片，通过FISH检测SYT-SSX融合基因的存在情况。将FISH结果与先前发表的逆转录聚合酶链反应（RT-PCR）结果进行比较。

结果

总体而言，96.9%（247/255）的病例通过FISH成功分析。FISH对已知滑膜肉瘤的敏感性为96.7%（58/60），对非滑膜肉瘤的特异性为100%（59/59）。此外，在78.1%（100/128）的疑似滑膜肉瘤中检测到SYT-SSX基因融合。在这些疑似滑膜肉瘤中，FISH与RT-PCR的一致性率为83.6%（102/122），总体上，这些病例中有79.7%（106/133）通过RT-PCR或FISH被确认为滑膜肉瘤。