荧光原位杂交技术检测SYT- SSX融合基因对滑膜肉瘤的诊断价值分析

Diagnostic value of fluorescence in situ hybridization for detecting SYT-SSX fusion gene in synovial sarcoma

目的:探讨荧光原位杂交技术(FISH)检测SYT-SSX融合基因对滑膜肉瘤的诊断价值。方法:选择2013年6月至2017年6月我院收治的96例经病理诊断为滑膜肉瘤患者为研究对象,所有患者经手术或活检取组织制作组织芯片,应用FISH技术检测SYT-SSX融合基因,免疫组化(IHC)检测常规抗体表达,对比两种检测方法的结果。结果:IHC结果显示,96例患者中Vimentin、CD99、AEl/AE3、EMA、CD34、Calponin、Ki-67的阳性表达率分别为100.00%、73.96%、90.63%、6.25%、29.17%、16.67%、60.42%。FISH检测结果显示,90例患者存在SYT基因易位,其中58例为考虑滑膜肉瘤,32例为可疑滑膜肉瘤,SYT-SSX阳性细胞百分率16.25%时诊断滑膜肉瘤的灵敏度、特异度、准确率分别为91.14%、100.00%、93.02%。FISH与IHC诊断滑膜肉瘤具有一致性(Kappa=0.43)。结论:FISH技术检测SYT-SSX融合基因灵敏度和特异度高,与IHC具有较高一致性,诊断滑膜肉瘤时可互相补充。

Objective: To investigate the diagnostic value of fluorescence in situ hybridization(FISH) for detecting SYT-SSX fusion gene in synovial sarcoma. Methods: 96 patients with synovial sarcoma diagnosed by pathology in our hospital from June 2013 to June 2017 were selected as the study subjects.Tissue biopsies were obtained from all patients by surgery or biopsy.SYT-SSX fusion gene was detected by FISH technique.The expression of routine antibody was detected by immunohistochemical(IHC) method.The results of the two methods were compared. Results: In the 96 patients, the positive rates of Vimentin, CD99, AEl/AE3, EMA, CD34, Calponin and Ki-67 were 100%, 73.96%, 90.63%, 6.25%, 29.17%, 16.67% and 60.42%, respectively. 90 patients were detected with translocation of SYT gene by FISH, including 58 cases of synovial sarcoma and 32 suspected synovial sarcoma.When the percentage of SYT-SSX positive cells was 16.25%, the sensitivity, specificity and accuracy of diagnosing synovial sarcoma were 91.14%, 100.00% and 93.02%, respectively.FISH and IHC were consistent in diagnosing synovial sarcoma(Kappa=0.43). Conclusion: FISH technology has high sensitivity and specificity to detect SYT-SSX fusion gene. FISH and IHC have high consistency and can complement each other in the diagnosis of synovial sarcoma.