原发性心脏滑膜肉瘤5例临床病理学分析

Primary cardiac synovial sarcoma:a clinicopathological analysis of five cases

目的探讨原发性心脏滑膜肉瘤(primary cardiac synovial sarcoma,PCSS)的临床病理学特征、免疫表型、分子改变和鉴别诊断要点。方法收集广东省人民医院2008—2023年诊断的5例PCSS,总结其临床病理学参数,行免疫组织化学染色、荧光原位杂交(FISH)检测和二代测序,并复习相关文献。结果患者中男性4例,女性1例;年龄范围16~51岁(中位年龄30岁);2例位于心包,2例位于右心室,1例位于左心室。4例获得随访资料,4例患者分别于确诊后3、7、13和26个月死亡。肿瘤最大径6.0~14.0 cm(平均10.0 cm)。镜下检查3例为单相型,2例为双相型。免疫组织化学检测显示所有病例均表达上皮细胞膜抗原、波形蛋白、bcl-2和CD56;肿瘤细胞不同程度表达广谱细胞角蛋白、SS18-SSX、SOX2、TLE1、CD99、突触素、Calretinin和Calponin。5例均行FISH检测,结果显示所有病例SS18基因出现断裂易位。二代测序检测显示3例存在SS18-SSX基因融合:1例为SS18-SSX1;2例为SS18-SSX2。结论PCSS是一种极其罕见的心脏恶性肿瘤。在掌握临床病史和组织学特征的基础上,同时结合免疫组织化学和分子检测综合分析,才能作出PCSS的准确诊断。

Objective To assess the clinicopathological features,immunophenotype,molecular characteristics and differential diagnosis of primary cardiac synovial sarcoma(PCSS).Methods Five cases of PCSS were collected at Guangdong Provincial People′s Hospital from 2008 to 2023,and their clinicopathological features were summarized.Immunohistochemical staining,fluorescence in-situ hybridization(FISH)and next-generation sequencing(NGS)were performed,and relevant literatures were reviewed.Results The cases were found in four males and one female,ranging in ages from 16 to 51 years(median 30 years).Two cases were located in the pericardium,two in the right ventricle,and one in the left ventricle.Follow-up data were available in four cases.All the four patients died of disease at 3,7,13 and 26 months,respectively,after diagnosis.The tumor maximum diameter ranged from 6.0 to 14.0 cm in(mean 10.0 cm).Microscopically,three cases were monophasic and two cases were biphasic.Immunohistochemically,all cases were immunoreactive for EMA,vimentin,bcl-2 and CD56.The tumor cells were variably positive for pan-cytokeratin,SS18-SSX,SOX2,TLE1,CD99,synaptophysin,calretinin and calponin.FISH showed the presence of SS18 rearrangement in all the cases.NGS detected SS18-SSX gene fusion in three cases(SS18-SSX1 in one and SS18-SSX2 in two).Conclusions PCSS is an exceedingly rare neoplasm,and should be distinguished from other various malignant epithelial and mesenchymal tumors.The clinical history,histopathological and immunohistochemical features,and molecular findings are all essential to the definitive diagnosis of PCSS.