Argani P, Faria P A, Epstein J I, Reuter V E, Perlman E J, Beckwith J B, Ladanyi M
The Johns Hopkins Hospital and National Wilms Tumor Study Group Pathology Center, Baltimore, Maryland, USA.
Am J Surg Pathol. 2000 Aug;24(8):1087-96. doi: 10.1097/00000478-200008000-00006.
We report 15 primary renal neoplasms with morphologic, immunohistochemical, and molecular features identical to those of synovial sarcoma. These tumors form a distinct subset of the entity previously designated as embryonal sarcoma of the kidney. Most were diagnosed between the ages of 20 and 50 years. On gross examination, tumors are large, partially necrotic, and usually contain smooth-walled cysts. Microscopically, tumors are characterized by mitotically active, monomorphic plump spindle cells with indistinct cell borders growing in short, intersecting fascicles. Grossly identified cysts are lined by mitotically inactive polygonal eosinophilic cells with apically oriented nuclei ("hobnailed epithelium"). The spindle cells are immunoreactive for vimentin, often immunoreactive for EMA, but typically non-immunoreactive for desmin, actin, S100, or cytokeratins, whereas the cyst epithelium is cytokeratin-positive. These findings are consistent with monophasic, spindled synovial sarcoma encircling dilated native renal collecting ducts. The presence of an SYT-SSX gene fusion resulting from the t(X;18) characteristic of synovial sarcoma was demonstrated by reverse transcriptase polymerase chain reaction in three of three tumors in which adequate RNA could be obtained from paraffin blocks. An additional case demonstrated the characteristic t(X; 18) translocation on cytogenetic analysis, but adequate material to perform molecular studies was not available in this case or the remaining 11 cases. Primary renal synovial sarcoma is a distinctive clinicopathologic entity confirmed by molecular detection of SYT-SSX fusion transcripts.
我们报告了15例原发性肾肿瘤，其形态学、免疫组织化学和分子特征与滑膜肉瘤相同。这些肿瘤构成了先前被指定为肾胚胎性肉瘤的一个独特子集。大多数患者在20至50岁之间被诊断出来。大体检查时，肿瘤较大，部分坏死，通常含有壁光滑的囊肿。显微镜下，肿瘤的特征是有丝分裂活跃、单形性丰满的梭形细胞，细胞边界不清晰，呈短的、交叉的束状生长。大体上确定的囊肿内衬有有丝分裂不活跃的多边形嗜酸性细胞（核位于顶端，即“鞋钉样上皮”）。梭形细胞对波形蛋白呈免疫反应，通常对EMA呈免疫反应，但对结蛋白、肌动蛋白、S100或细胞角蛋白通常无免疫反应，而囊肿上皮细胞角蛋白呈阳性。这些发现与围绕扩张的肾集合管的单相梭形滑膜肉瘤一致。通过逆转录聚合酶链反应在三个能从石蜡块中获得足够RNA的肿瘤中的三个中证实了滑膜肉瘤特征性的t(X;18)导致的SYT-SSX基因融合。另外一例经细胞遗传学分析显示有特征性的t(X;18)易位，但在该病例及其余11例中没有足够的材料进行分子研究。原发性肾滑膜肉瘤是一种独特的临床病理实体，通过SYT-SSX融合转录本的分子检测得以证实。
