Xp11.2易位/TFE3基因融合相关性肾癌7例报告并文献复习  

Renal carcinomas associated with Xp11.2 translocations/TFE3 gene fusions:report of seven cases and literatures review

作　　者：牛越[1] 袁帅[1] 舒博[1] 陈鹏[1] 韩辉[2] 

机构地区：[1]新疆医科大学附属肿瘤医院泌尿科,乌鲁木齐830011 [2]中山大学肿瘤防治中心泌尿科

出　　处：《临床泌尿外科杂志》2014年第7期584-586,共3页Journal of Clinical Urology

摘　　要：目的：探讨Xp11.2易位/TFE3基因融合相关性肾癌的临床诊断及治疗。方法：结合文献回顾性分析我院于2003年1月～2013年10月病理确诊为Xp11.2易位/TFE3基因融合相关性7例肾癌患者的临床资料,术前均诊断为肾占位性病变,均行根治性肾切除术。结果：全部患者临床表现缺乏特异性。大体标本切面6例为灰黄色或黄褐色,部分伴有坏死和出血,1例为囊性且囊壁厚而粗糙。镜下均可见透明细胞构成的乳头状结构伴较多钙化结节。术后1例化疗,2例行生物靶向治疗,1例在术后2年复发并开始行生物靶向治疗。术后随访2例复发,3例随访12～40个月,未见明显复发或进展征象,2例分别在术后20个月及24个月失访。结论：Xp11.2易位/TFE3基因融合相关性肾癌是一种少见的肾脏恶性肿瘤,主要发生于儿童和年轻人,确诊依赖于病理学,以手术治疗为主,术后可行辅助治疗,预后较差。Objective：To investigate the diagnosis and treatment of renal carcinomas associated with Xp11.2translocations/TFE3gene fusions.Method：The clinical data of seven renal carcinomas associated with Xp11.2translocations/TFE3gene fusions that have been diagnosed through pathology from Jan.2003to Oct.2013were retrospectively analyzed according to some related literatures.All cases were diagnosed as renal tumor before surgery.Radical nephrectomy was performed on all patients.Result：Clinical presentation of seven renal carcinomas associated with Xp11.2translocations/TFE3gene fusions lacked specificity.The gross appearances of six cases were pale yellow or yellow brown,some of them with necrosis and hemorrhage,and one case was cystic.Microscopically,the characteristic findings were papillary structures formed by clear cells and many calcified nodules.Chemotherapy was given for one case and biological target therapy was given for two cases after operation.Biological target therapy was given for one case after recurrence.Recurrence was found in two cases.Three cases were not found recurrence over 12-40months＇ follow-up,and two cases were not followed up 20months and 24months postoperatively.Conclusion：Renal carcinoma associated with Xp11.2translocations/TFE3gene fusions is a rare malignant tumor.It occurs mainly in children and young adults.Clinical diagnosis depends on pathology.Its prognosis is poor and operation is the main treatment method.Adjuvant therapy may be a choice after operation.

关 键 词：肾癌 Xp11 2 TFE3 

分 类 号：R737.11[医药卫生—肿瘤]