肾脏横纹肌样滑膜肉瘤1例并文献复习  

Renal rhabdoid synovial sarcoma: report of a case with literature review

作　　者：袁伟[1] 陈伶俐[1] 侯英勇[1] 侯君[1] 纪元[1] 曾海英[1] 黄洁[1] 

机构地区：[1]复旦大学附属中山医院病理科,上海200032

出　　处：《临床与实验病理学杂志》2017年第7期773-777,共5页Chinese Journal of Clinical and Experimental Pathology

基　　金：上海市卫计委薄弱科室项目(2015ZB0201);复旦大学附属中山医院青年基金(2015ZSQN17)

摘　　要：目的探讨罕见的肾脏横纹肌样滑膜肉瘤的临床病理学特征。方法回顾性分析1例肾脏横纹肌样滑膜肉瘤患者的临床资料和病理学形态,对其原发灶和转移灶行免疫组化EnVision两步法检查及SS18-SSX融合基因检测,并复习相关文献。结果患者男性,31岁,2014年11月影像学检查发现右肾肿瘤,行右肾根治性手术,镜下见肿瘤细胞呈短梭形,弥漫排列,胞质丰富,可见嗜伊红团块样物,初次病理诊断为肾脏横纹肌样瘤。2015年10月影像学检查发现肝脏及膈肌间占位,行肝脏肿瘤及部分膈肌切除,镜下见肿瘤细胞均呈长梭形,细胞密集,交叉束状排列,细胞质较少,胞质内未出现嗜伊红团块样物,该形态学为典型滑膜肉瘤。免疫表型:EMA、TLE1、vimentin、CD56均阳性,INI1阴性。FISH检测SS18-SSX融合基因,原发灶和转移灶均为阳性,最终证实原发灶即为滑膜肉瘤。结论肾脏横纹肌样滑膜肉瘤罕见,易误诊为肾脏横纹肌样瘤,该例肾脏横纹肌样滑膜肉瘤拓宽了肾脏横纹肌样肿瘤的鉴别诊断瘤谱,即使为典型的横纹肌样形态,也需利用分子生物学手段进行鉴别诊断。SS18-SSX融合基因检测阳性是确诊滑膜肉瘤的依据。Purpose To report a rare case of renal rhab-doid synovial sarcoma and review the literature, in order to improve the realization for this disease and reduce misdiagnosis. Method The clinicopathological data of 1 case rhabdoid renal synovial sarcoma were retrospectively analyzed. The tumors were examined by immunohistochemical of EnVision two-step staining and FISH, the related literatures were reviewed. Result A 31- year-old male patient accepted the right kidney radical operation in November 2014 after imaging examination of right kidney tumor. Microscopically, the tumor ceils showed short spindle cells with rich cytoplasm and eosinophilic bodies in the cyto- plasm. The pathological diagnosis is the renal rhabdoid tumor for this time. The patient was found a tumor between the liver and the diaphragm by imaging examination in October 2015. The second operation was carried out successfully. Microscopically, the tumor cells were spindle with little cytoplasm and without co-sinophilic bodies in the cytoplasm. It was a typical synovial sar-coma in morphology for this time. Immunohistochemical staining showed positive for vimentin, EMA, CD56, and TLE1, SS18- SSX fusion gene was disclosed in the primary and recurrent tumor cells, it was therefore corrected as rhabdoid synovial sarcoma for the primary tumor. Conclusion Renal rhabdoid syno-vial sarcoma is rare. Renal primary rhabdoid synovial sarcoma is easily misdiagnosed as renal rhabdoid tumor. The renal rhabdoid synovial sarcoma has broadened the differential diagnosis of renal rhabdoid tumors spectrum. Even for a tumor with typical rhab- doid morphology, molecular biology method for differential diag-nosis is needed. SS18-SSX fusion gene is the basis for diagnosis of synovial sarcoma.

关 键 词：肾脏肿瘤 滑膜肉瘤 横纹肌样 免疫组织化学 融合基因 

分 类 号：R737.11[医药卫生—肿瘤]