肾脏原发性滑膜肉瘤9例临床病理分析

Clinicopathologic analysis of 9 cases of primary renal synovial sarcoma

目的 探讨肾脏原发性滑膜肉瘤（synovial sarcoma,SS）的临床病理学特征、诊断及鉴别诊断.方法 观察9例肾脏原发性SS的临床特点、组织学形态、免疫表型和分子遗传学改变,并结合随访资料判断其预后.结果 9例（其中7例为外院会诊病例）中,男性2例,女性7例（男∶女=1∶3.5[）,年龄21 ～48岁（平均32岁）.临床症状包括腹部疼痛和血尿,伴或不伴有腹部肿块.肿瘤直径1 ～15 cm,平均8 cm;6例为单相型（梭形细胞型）,2例为双相型,1例为低分化型.5例可见血管外皮瘤样区域,1例局部间质黏液样变性.免疫表型：肿瘤细胞不同程度表达CK（AE1/AE3）、EMA、CD99、BCL-2、vimentin、calponin.分子遗传学检测：9例中8例行原位荧光杂交检测,均见SYT-SSX融合性基因.6例获得随访资料,随访时间6～40个月,平均14个月.1例术后40个月死于肺转移;1例术后13个月腹膜后淋巴结转移;1例术后5个月双肺转移;其余3例于术后分别随访13、12和6个月,尚无复发和转移.结论 肾脏原发性SS罕见,预后较差;HE形态可呈单相型、双相型和低分化型,诊断时需与肾脏间叶源性肿瘤、肉瘤样肾细胞癌、混合性上皮-间质肿瘤等鉴别;SYT-SSX融合基因检测有助于诊断和鉴别诊断.

Purpose To investigate the clinicopathologic characteristics,diagnosis and differential diagnosis of primary renal synovial sarcoma.Methods The clinical,pathological,immunohistochemical and molecular findings of 9 cases of primary renal synovial sarcoma were reviewed,with analysis of follow-up data to predict the prognosis.Results The 9 cases （including 7 consultation） involved 2 males and 7 females with the age ranging from 21 to 48 years （mean,32 years）.Clinically,patients presented with abdomen pain and hematuria,with or without abdominal mass.Pathologically,the size of the tumors ranged from 1 to 15 cm in maximum diameter （mean,8 cm）.Six of the 9 cases were histologically categorized as monophasic variant,two biphasic ones,and another poorly differentiated one.Of the 9 cases,five cases showed prominent hemaagiopericytoma-like pattern,and one case presented myxoid degeneration in the local area.Immunohistochemically,the tumor ceils were positive for CK（AE1/AE3）,EMA,CD99,BCL-2,vimentin,calponin in various degrees.Fluorescence in situ hybridization （FISH） was performed in 8 cases to detect for SYT-SSX fusion gene.Follow-up information was available in 6 patients.The duration of follow-up ranged from 6 to 40 months mean,14 months.One patient died of lung metastasis at 40 months after the operation,one patient had retroperitoneal lymph node metastasis at 13 months after the operation,one patient had lung metastasis at 5 months after the operation.The remaining three cases had no recurrence and metastasis at 13,12 and 6 months after the operation,respectively.Conclusions Primary renal synovial sarcoma is a rare,highly aggressive tumor with poor prognosis.Several histology variants of the tumor,including monophasic,biphasic,and poorly differentiated ones,may be found.The diagnosis of primary renal synovial sarcoma need to make differentiation from renal mesenchymal tumors,sarcomatoid renal cell carcinoma and mixed epithelial and stromal tumor.And SYT-SSX fusion gene detection is significant to the diagnosis and differential diagnosis.