成人Xp11.2易位/TFE3基因融合相关性肾癌26例报告

Xp11.2 translocation/TFE3 gene fusion associated renal cancer in adults:report of 26 cases

目的:探讨成人Xp11.2易位/TFE3基因融合相关性肾癌(简称Xp11.2肾细胞癌)的临床特征、治疗及预后。方法:回顾性分析2015年8月～2017年3月我院收治的26例Xp11.2肾细胞癌成人患者的临床资料,分析该类型肿瘤的影像学特征、诊断、治疗方法及预后。结果:26例患者中,男10例,女16例;年龄19～59岁,平均31.4岁。其中13例行腹腔镜肾癌根治术,2例行腹腔镜肾部分切除术,3例行机器人辅助腹腔镜肾癌根治术,2例行机器人辅助腹腔镜肾部分切除术,5例行开放肾癌根治术,1例肾癌根治术后因纵隔转移穿刺确诊后行靶向药物治疗。术后病理结果均提示Xp11.2肾细胞癌。术后平均随访时间12(1～36)个月,1例患者因肿瘤全身多发转移死亡,2例失访,其余23例均预后较好。结论:Xp11.2肾细胞癌临床发病率较低,诊断主要结合其特征性的影像学表现、免疫组织化学染色及FISH确诊实验,手术主要以肾癌根治性切除术为主,短期随访预后尚可,但仍需长期随访。

Objective:To explore the characteristics of renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene fusion in adults.Method:From August 2015 to March 2017,26 patients were identified as renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene fusion in our hospital.We analyzed and summarized their imaging features,diagnosis,treatment and prognosis.Result:The patients included 10 males and 16 females,with an average age of 31.4(range,19-59)years old.Thirteen of the patients received laparoscopic radical nephrectomy,two patients received laparoscopic partial nephrectomy,three patients received robot-assisted laparoscopic radical nephrectomy,two of the patients received robot-assisted laparoscopic partial nephrectomy,another five received radical nephrectomy,all of these patients were identified as renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene fusion.During the average follow-up period of 12(range,1-36)months,1 patient died of multiple metastases of the tumor,2 of them loss of follow up and the remaining 23 cases showed better prognosis.Conclusion:Renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene fusion is a disease with low morbidity,and its diagnosis mainly depends on the characteristic imaging findings,immunohistochemistry and FISH confirmatory tests.The treatment of this tumor is mainly dominated by radical nephrectomy.Due to the poor prognosis of this tumor,long-term postoperative follow-up is necessary.