肺原发滑膜肉瘤12例临床病理学分析  

Primary synovial sarcoma of lung:a clinicopathological analysis of 12 cases

作　　者：张献伟 魏建国[2] 孙建平 徐紫光 成琼 张雷 孔令非 Zhang Xianwei;Wei Jianguo;Sun Jianping;Xu Ziguang;Cheng Qiong;Zhang Lei;Kong Lingfei(Department of Pathology,Henan Provincial People′s Hospital,People′s Hospital of Zhengzhou University,Zhengzhou 450003,China;Department of Pathology,Shaoxing People′s Hospital of Zhejiang Province,Shaoxing 312000,China;Department of Pathology,Zhengzhou Yihe Hospital,Zhengzhou 450000,China)

机构地区：[1]河南省人民医院郑州大学人民医院病理科,郑州450003 [2]浙江省绍兴市人民医院病理科,绍兴312000 [3]郑州颐和医院病理科,郑州450000

出　　处：《中华病理学杂志》2023年第11期1120-1125,共6页Chinese Journal of Pathology

摘　　要：目的探讨肺原发滑膜肉瘤(primary synovial sarcoma of the lung,PSSL)的临床病理学特征、免疫表型、分子改变及鉴别诊断要点。方法收集河南省人民医院2010年5月至2021年4月诊断的12例PSSL,总结其临床病理学参数,在原有基础上加做SS18-SSX融合抗体、H3K27Me3、SOX2免疫组织化学标记,评估其对PSSL的诊断及鉴别诊断价值。结果12例患者诊断时年龄为32~75岁(平均50岁);男性7例,女性5例;左肺2例,右肺10例;6例手术患者获得病理分期数据,其中5例局限于肺组织内(T1),1例累及纵隔(T3),2例存在区域淋巴结转移(N1),均无远处转移。镜下观察11例呈单相梭形细胞型,1例为双相型,以上皮样细胞为主,表现为内衬立方上皮或柱状上皮的腺样结构及筛孔样结构,活检标本在诊断中存在很大的难度。免疫组织化学显示8例(8/12)表达广谱细胞角蛋白,11例(11/12)表达上皮细胞膜抗原,8例(8/12)表达TLE1,2例(2/12)表达S-100蛋白,所有病例均不同程度表达bcl-2及波形蛋白,所有病例均不表达SOX10及CD34,Ki-67阳性指数均位于15%~30%之间,SS18-SSX融合抗体在12例PSSL中均弥漫强阳性表达。8例(8/12)部分或弥漫表达SOX2,且在上皮样成分中强表达,3例(3/12)H3K27Me3表达缺失。12例标本均经荧光原位杂交(FISH)检测确认存在SS18基因断裂。在治疗方面,6例行手术加术后化疗,6例行单纯性化疗。其中10例获得随访数据,随访时间9~114个月,平均随访时间41个月,中位随访时间26个月;5例存活,5例在2年内死于该疾病。结论PSSL罕见,形态学谱系较宽,明确诊断需借助免疫组织化学及分子检测手段,与目前常用的免疫标记相比,SS18-SSX融合抗体免疫组织化学对PSSL具有更好的灵敏度,有望取代FISH、逆转录-聚合酶链反应或二代测序成为诊断PSSL的替代性标志物。Objective To investigate the clinicopathological features,immunophenotype,molecular features and differential diagnosis of primary synovial sarcoma of the lung(PSSL).Methods Twelve cases of PSSL were collected at Henan Provincial People′s Hospital,during May 2010 and April 2021,and their clinicopathological parameters were summarized.SS18-SSX,H3K27Me3,and SOX2 were added to the original immunomarkers to evaluate their diagnostic value for PSSL.Results The age of 12 patients when diagnosed ranged from 32 to 75 years(mean of 50 years).There were 7 males and 5 females,2 left lung cases and 10 right lung cases.Of the 6 patients who underwent surgical resection,five cases were confined to lung tissue(T1),one case had mediastinal invasion(T3),two cases had regional lymph node metastasis(N1),and none had distal metastasis.Microscopically,11 cases showed monophasic spindle cell type and one case showed biphasic type composed of mainly epithelial cells consisting of cuboidal to columnar cells with glandular and cribriform structures.It was difficult to make the diagnosis by using the biopsy specimens.Immunohistochemistry(IHC)showed CKpan expression in 8 of 12 cases;EMA expression in 11 of 12 case;TLE1 expression in 8 of 12 cases;S-100 protein expression in two of 12 cases;various expression of bcl-2 and vimentin in 12 cases,but no expression of SOX10 and CD34 in all the cases.The Ki-67 index was 15%-30%.The expression of SS18-SSX fusion antibody was diffusely and strongly positive in all 12 cases.SOX2 was partially or diffusely expressed in 8 of 12 cases,with strong expression in the epithelial component.H3K27Me3 was absent in 3 of 12 cases.SS18 gene translocation was confirmed by fluorescence in situ hybridization(FISH)test in all 12 samples.Six cases underwent surgery and postoperative chemotherapy,while the other six cases had chemotherapy alone.Ten patients were followed up after 9-114 months,with an average of 41 months and a median of 26 months.Five patients survived and five died of the disease within two years.C

关 键 词：肺肿瘤 肉瘤 滑膜 分子诊断技术 基因融合 SS18-SXX 

分 类 号：R734.2[医药卫生—肿瘤]