Xp11.2易位/TFE3基因融合相关肾细胞癌12例病例分析并文献复习  

Analysis of twelve cases of Xp11.2 translocation/TFE3 gene fusion-related renal carcinoma and review of literature

作　　者：王庆伟[1,2] 陶德赏 朱文[2] 王焱[2] 王晓飞[2] 杨琨琨[2] 张涛[2] 文建国[1,2] 

机构地区：[1]河南省高等学校临床医学重点学科开放实验室,郑州450052 [2]郑州大学第一附属医院泌尿外科

出　　处：《临床泌尿外科杂志》2016年第8期702-705,709,共5页Journal of Clinical Urology

摘　　要：目的：探讨Xp11.2易位/TFE3基因融合相关肾细胞癌影像学、病理学特征及预后。方法：回顾性分析12例Xp11.2易位/TFE3基因融合相关肾细胞癌病例的临床资料,并复习相关文献。结果：12例Xp11.2易位/TFE3基因融合相关性肾癌中TNM分期5例T1M0N0,3例T2M0N0,1例T2N1M0,1例T3N1M0,2例T4N2M0,影像学CT值增强幅度为（31±7.5）HU。术后病理瘤组织表现为嗜酸性红染,间质内可见砂砾体结构等典型特征,免疫组化显示TFE3＋、CD10＋,随访4~28个月,3例死亡,9例未见肿瘤复发及转移。结论：Xp11.2易位/TFE3基因融合相关性肾癌特征性影像学表现为CT轻度不均匀强化,存在特征性组织病理学改变和免疫标记TFE3阳性,TFE3免疫组化是目前临床筛选诊断的普遍方法。预后与其年龄、肿瘤分期及亚型有关。Objective：To analyze the image,pathological characteristics and prognosis of renal carcinoma associated with Xp11.2translocation/TFE3 gene.Method：Clinical and pathological data of 12 patients with Xp11.2translocation/TFE3 gene fusion-related renal carcinoma were retrospectively analyzed,and related literature was reviewed as well.Result：Of 12 patients,the TNM stages were five cases of T1M0N0,three cases of T2M0N0,one case of T2N1M0,one case of T3N1M0,two cases of T4N2M0.The pathological examination showed the tumor cells contained eosinophilic cytoplasm with prominent psammoma bodies in renal interstitial tissue.Immunohistochemical study showed that TFE3 and CD10were positive in all cases.Image of CT enhanced amplitude was（31±7.5）HU.Three cases died,and the other nine cases weren＇t found recurrence or metastasis over the follow-up period of 4-28 months.Conclusion：The renal carcinoma associated with Xp11.2translocation/TFE3 gene is low amplitude of CT enhancement value with the histopathological characteristics and TFE3 positive immune markers,and immunoreactivity for TFE3 is the commom method for clinical screening and diagnosis.The postoperative suvival is related to age of patients,tumor staging and the subtypes.

关 键 词：肾细胞癌 Xp11.2易位 TFE3基因融合 文献复习 

分 类 号：R737.11[医药卫生—肿瘤]