摘要
目的 探讨用组织芯片对滑膜肉瘤进行荧光原位杂交(FISH)检测的可行性并观察SS18-SSX、SSX、BCOR及TLE1在滑膜肉瘤组织中的表达,分析其与临床病理特征及预后的关系.方法 对40例经形态学典型且经荧光原位杂交检测到SS18 基因重排的滑膜肉瘤筛选有代表性的蜡块制作组织微芯片,用组织芯片进行荧光原位杂交检测SS18 基因重排,并采用免疫组织化学染色检测SS18-SSX、SSX、BCOR及TLE1在肿瘤组织中的表达情况,分析其与临床病理特征及预后的关系.结果 40例滑膜肉瘤中,39例组织芯片的FISH检测结果与常规制片相同,均为SS18基因重排阳性,1例组织芯片FISH检测结果为SS18基因重排阴性,组织芯片制片FISH检测结果与常规制片FISH检测结果的一致率为97.5%(39/40).SS18-SSX、SSX、BCOR、TLE1在滑膜肉瘤中呈不同程度的阳性,总阳性率分别为97.5%、97.5%、92.5%及97.5%,若以中等—强阳性计算,则阳性率分别为80%、80%、62.5%及70%.TLE1表达情况与组织学分型相关,TLE1强阳性表达更多见于单相型滑膜肉瘤.40例患者5年的无进展生存率为72%,5年的总生存期为80%.分别以SS18-SSX、SSX、BCOR、TLE1的表达情况及临床病理特征(包括性别、年龄、发病部位、肿瘤最大径、组织学分型)进行单因素分析,只有组织学分型为影响无进展生存率和总生存率的因素,组织学类型为差分化型的滑膜肉瘤预后较差.结论 用组织芯片的方法对滑膜肉瘤进行荧光原位杂交检测是可行的.TLE1强阳性表达更多见于单相型滑膜肉瘤.差分化型滑膜肉瘤预后较差.
Abstract
Objective To explore the feasibility of using tissue microarrays for fluorescence in situ hybridization(FISH)to detect synovial sarcoma and to observe the expression of SS18-SSX,SSX,BCOR,and TLE1 in synovial sarcoma tissues.This study also aims to analyze their association with clinicopathological features and prognosis.Methods Tissue microarrays were prepared from representative paraffin blocks of 40 cases of synovial sarcoma that were morphologically typical and had SS18 gene rearrangement detected by FISH.These microarrays were then used for FISH to detect SS18 gene rearrangement.Immunohistochemical staining was employed to detect the expression of SS18-SSX,SSX,BCOR,and TLE1 in tumor tissues.Their correlations with clinicopathological features and prognosis were analyzed.Results Among the 40 cases of synovial sarcoma,39 cases showed the same results in tissue microarray FISH as in routine slide preparations,all positive for SS18 gene rearrangement,with one case showing negative SS18 gene rearrangement in tissue microarray FISH.The concordance rate between tissue microarray FISH and routine slide FISH was 97.5%(39/40).The expressions of SS18-SSX,SSX,BCOR,and TLE1 were positive in varying degrees in synovial sarcoma,with overall positive rates of 97.5%,97.5%,92.5%,and 97.5%,respectively.When considering moderate to strong positivity,the rates were 80%,80%,62.5%,and 70%,respectively.TLE1 expression was related to histological subtypes,with strong positivity more frequently ob-served in monophasic synovial sarcoma.The five-year progression-free survival rate of the 40 patients was 72%,and the overall five-year survival rate was 80%.Univariate analysis using the expression levels of SS18-SSX,SSX,BCOR,TLE1,and clinicopathological features(including gender,age,site of onset,maximum tumor diameter,histological subtype)revealed that only histological subtype was a factor affecting progression-free survival and overall survival rates,with poorly differentiated synovial sarcoma having a worse prognosis.Conclusion Using tissue microarrays for FISH to detect synovial sarcoma is feasible.Strong expression of TLE1 is more common in monophasic synovial sarcoma.Poorly differentiated synovial sarcoma has a poorer prognosis.
基金项目
北京积水潭医院"学科骨干"计划专项经费资助(XKGG202205)