Xp 11.2易位/TFE3基因融合相关性肾癌3例并文献复习  

Renal Cell Carcinoma Associated with Xp11.2 Translocation/TFE3 Gene Fusion:Report of Three Cases and Literatures Review

作　　者：于忠英[1] 李金雨[1] 杨立民[2] 林吓聪[1] 赵力[1] 庄园丽 YU Zhongying;LI Jinyu;YANG Limin;LIN Xiacong;ZHAO Li;ZHUANG Yuanli(Department of Urology, NO. 909 Hospital of People's Liberation Army , Dongnan Affiliated Hospital of Xiamen University , Zhangzhou Fu-jian 363000, China)

机构地区：[1]解放军909医院暨厦门大学附属东南医院泌尿外科,福建漳州363000 [2]解放军909医院暨厦门大学附属东南医院病理科,福建漳州363000

出　　处：《华南国防医学杂志》2019年第1期5-8,共4页Military Medical Journal of South China

基　　金：福建省漳州市科技基金项目(ZZ2013J27);厦门大学附属东南医院青年苗圃基金(12Y010)

摘　　要：目的探讨Xp11.2易位/TFE3基因融合相关性肾癌的诊断、病理特征、治疗及预后。方法回顾分析2014-10/2016-1于作者医院确诊的Xp11.2易位/TFE3基因融合相关性肾癌患者的临床资料,共3例,结合文献对该疾病的临床表现、影像学特点、治疗及预后进行总结。结果 3例患者无明显共性的特异性临床表现,术后病理组织学有一定差异,免疫组织化学均提示TFE3(+);至今1例随访42个月,1例30个月,1例3个月,均未见明显复发及转移表现。结论 Xp11.2易位/TFE3基因融合相关性肾癌是一种相对罕见的肾脏恶性肿瘤,缺乏特异性临床和影像学表现,主要靠术后病理和基因检测诊断,免疫组织化学检测TFE3(+)有助于明确诊断。Objective To investigate the diagnosis, pathological characteristics, treatment and prognosis of renal cell carcinoma associated with Xpll. 2 translocation/TFE3 gene fusion. Methods A total of 3 cases with renal cell carcinoma associated with Xpll.2 translocation/TFE3 gene fusion who diagnosed in authors’ hospital from October 2014 to January 2016 were retrospectively analyzed. The clinical manifestations, imaging characteristics, treatment and prognosis of the disease were summarized in the literatures. Results There was no obvious common clinical manifestation in 3 cases. There were some differences in histopathology after operation, and immunohistochemistry showed TFE3(+). The three cases had been followed up for 42 months,30 months, 3 months, respectively, without recurrence and metastasis,Conclusion Renal cell carcinoma associated with Xpll. 2 translocation/TFE3 gene fusion is a rare malignant tumor. It lacks specific clinical and imaging manifestation, clinical diagnosis depends on postoperative pathology and gene detection.Immunohistochemical detection of TFE3(+) is helpful for definitive diagnosis.

关 键 词：Xp11.2易位/TFE3基因融合 肾癌 临床分析 

分 类 号：R737.11[医药卫生—肿瘤]