免疫组织化学染色和SYT-SSX融合基因检测在滑膜肉瘤诊断中的价值  

Roles of immunohistochemistry and detection of SYT-SSX fusion gene in diagnosis of synovial sarcoma

作　　者：孙燕[1] 孙保存[1] 赵秀兰[2] 王健[1] 陈静[1] 李晓青[1] 冯玉梅[1] 方志伟[2] 郝希山[1] 

机构地区：[1]天津医科大学肿瘤医院病理科,300060 [2]天津医科大学病理学教研室

出　　处：《中华病理学杂志》2007年第7期480-484,共5页Chinese Journal of Pathology

基　　金：国家自然科学基金(30572097)

摘　　要：目的评价免疫组织化学染色和 SYT-SSX 融合基因检测在滑膜肉瘤诊断中的价值与应用范围。方法收集可能为滑膜肉瘤的病例195例,根据临床表现、组织学形态和免疫组织化学染色结果将其分成确诊、高度可疑和可疑滑膜肉瘤,利用逆转录-聚合酶链反应(RT-PCR)技术检测石蜡包埋组织中 SYT-SSX 融合基因的表达,并比较其与免疫组织化学 PV6000二步法染色之间的关系,评价各自的诊断价值。结果确诊、高度可疑和可疑滑膜肉瘤分别为62(31.8%)、49(25.1%)和84例(43.1%)。179例(91.8%)样本能够进行 SYT-SSX 的 RT-PCR 检测,其中140例(78.2%)呈阳性。SYT-SSX 在确诊、高度可疑和可疑病例中的阳性率分别为94.7%(54/57)、86.0%(37/43)和62.0%(49/79)。上皮膜抗原(EMA)在确诊和高度可疑滑膜肉瘤 SYT-SSX 阳性病例中的阳性率明显高于其SYT-SSX 阴性病例(分别 P=0.022,P=0.010),且 EMA 与 SYT-SSX 表达呈正相关(分别 r_s=0.431,P=0.001;r_s=0.463,P=0.002),而细胞角蛋白、波形蛋白和 S-100蛋白在两类病例中的阳性率差异无统计学意义(P>0.05);4种指标在可疑滑膜肉瘤 SYT-SSX 阳性和阴性病例中的表达差异无统计学意义(P>0.05)。结论利用传统诊断方法可以确诊的滑膜肉瘤不必进行 SYT-SSX 检测;EMA 免疫组织化学染色在高度可疑滑膜肉瘤中的诊断价值与 SYT-SSX 的 RT-PCR 检测相近,可以代替后者;但是,融合基因的 RT-PCR 分析对可疑滑膜肉瘤的确诊具有重要意义。Objective To assess the diagnostic values of immunohistochemistry and SYT-SSX fusion gene detection for synovial sarcoma. Methods Based on clinical features, histological and immunohistochemical profiles, 195 cases of tumors were divided into three diagnostic categories- definitive synovial sarcoma, probable synovial sarcoma and possible synovial sarcoma. RT-PCR Detection of the SYT- SSX fusion gene was performed using paraffin embedded tissue samples. Comparison between RT-PCR and immunohistochemistry results was carried out and their diagnostic value was evaluated. Results There were 62 （31.8%） definite synovial sarcomas, 49 （25.1%） probable synovial sarcomas and 84 cases （43.1%） possible synovial sarcomas. SYT-SSX fusion gene was detected in 140 （78.2%） cases overall, including 94.7% （54/57） definite synovial sarcomas, 86.0% （37/43） probable synovial sarcomas and 62. 0% （49/ 79） possible synovial sarcomas. In tumors in the certain and probable synovial sarcoma categories, the positive rates of epithelial membrane antigen （EMA） were significantly higher in the SYT-SSX positive cases than SYT-SSX-negative cases （ P = 0. 022, P = 0. 010, respectively）. EMA was positively correlated with the presence of SYT-SSX （rs=0.431, P =0.1301, rs =0. 463, P =0.002, respectively）. However, such a correlation was not seen in cytokeratin （CK）, vimentin or S-100 protein immunostains （P 〉0.05）. In tumors of possible synovial sarcoma category, there were no significant differences of CK, EMA, vimentin or S-100 protein between SYT-SSX-positive and SYT-SSX-negative tumors. Conclusions SYT-SSX fusion gene detection is not needed when the conventional approaches are diagnostic. EMA positivity has a similar diagnostic value to that of SYT-SSX by RT-PCR for tumors in the probable synovial sarcoma category. However, detection of SYT-SSX is very important for diagnosis of the tumors in the category of possible synovial sarcoma.

关 键 词：肉瘤 滑膜 基因融合 聚合酶链反应 免疫组织化学 

分 类 号：R738.5[医药卫生—肿瘤]