Xp11.2易位/TFE3基因融合相关性肾癌临床病理分析

Xp11.2 translocation/TFE3 gene fusion associated with renal cell carcinoma clinicopathological analysis

目的探讨Xp11.2易位/TFE3基因融合相关性肾癌的临床病理学特征、鉴别诊断及预后。方法回顾性分析5例Xp11.2易位/TFE3基因融合相关性肾癌患者的临床特征、影像学表现、病理学和免疫组化特征,并结合临床资料复习相关文献。结果 5例患者中,男2例,女3例,平均年龄23岁(7～43岁)。临床主要症状表现为血尿和腰腹部疼痛。肿瘤直径为3.7(2.6～4.5 cm),均行肾癌根治术。5例中4例大体标本呈实性,切面灰红及灰黄,部分区域伴有出血。1例大体标本呈囊实性,囊壁稍增厚,囊腔内含暗红色清亮液体。镜检示肿瘤由透明细胞或者嗜酸性细胞构成的乳头状、巢状及腺泡状结构,瘤细胞边界清楚,染色质呈囊泡状,核仁明显,间质中含有多少不等的沙砾体。免疫组化示5例肿瘤细胞均弥漫强表达TFE3、CD10;不同程度表达PAX-2、PAX-8、EMA、vimentin、P504S、CK-L、CAIX、CKpan、E-cal、RCC;余CK7、CD117、M0C-31、P63、SMA、KSP-Cadherin均缺失乏表达,K67阳性率达3%。结论 Xp11.2易位/TFE3基因融合相关性肾癌是一种罕见的肾脏恶性肿瘤,主要依靠患者年龄、组织病理学及免疫组化标记TFE3来确诊,治疗以手术为主,预后较差。

Objective To investigate the clinicopathological features,differential diagnosis and prognosis of Xp11.2 translocation/TFE3 fusion-related renal cell carcinoma. Methods The clinical features,imaging findings,pathology and immunohistochemical features of 5 patients with Xp11.2 translocation/TFE3 fusion related renal cell carcinoma were analyzed retrospectively.The related literatures were reviewed according to the clinical data. Results Two patients were males and the other three were females.The mean age was 23 years(range 7-43 years).The main clinical manifestations were hematuria and waist and abdomen pain.Tumor diameter was 2.6-4.5 cm(average 3.7 cm).Four cases of the general specimen was solid,red-yellow and daffodil-yellow sections with bleeding in some areas.One case of the general specimen was cystic solid,slightly thickening of the wall,cysts containing dark red clear liquid.Microscopic examination of the tumor by the transparent cells or eosinophilic papillary,nests and acini-like structure,tumor cells clear boundary,the chromatin was vesicular,prominent nucleoli,the interstitial contains many unequal gravel.Immunohistochemistry assays showed that the expression of TFE3 and CD10 was diffusely expressed in five tumor sections.The expression of PAX-2,PAX-8,EMA,vimentin,P504S,CK-L,CAIX,CKpan,E-cal,CD117,M0C-31,P63,SMA and KSP-Cadherin was all negative.The positive rate of KI67 was 3%. Conclusion Xp11.2 translocation/TFE3 gene fusion associated renal cell carcinoma is a rare renal malignancy,which was diagnosed by the clinicopathological analysis of patient age,histopathology and immunohistochemistry TFE3.The treatment of this rare renal malignancy was surgery,but the prognosis is poor.