成人 Xp11．2易位/TFE3基因融合相关性肾癌的临床分析

目的：探讨成人 Xp11．2易位/TFE3基因融合相关性肾癌的临床特点和诊治方案.方法结合文献,回顾性分析2009年5月至2015年6月我院收治的8例经病理检查确诊为Xp11．2易位/TFE3基因融合相关性肾癌成人患者的临床资料.结果8例患者结合组织病理学和免疫组化结果得以确诊,均行手术治疗,3例辅助靶向治疗,术后随访3~69个月,5例无瘤存活,3例复发死亡.结论 Xp11．2易位/TFE3基因融合相关性肾癌是一种罕见的肾癌亚型,成年患者预后欠佳,早期诊断、积极治疗、密切随访能有效改善预后.

Clinical analysis of renal carcinoma associated with Xp11.2 translocations/TFE3 gene fusions in adult patients

Objective To explore the clinical features and treatment of renal cell carcinoma as-sociated with Xp1 1.2 translocation/TFE3 gene fusion in adults. Methods Retrospective analysis the clinical data of 8 adult renal cell carcinoma associated with Xp1 1.2 translocation/TFE3 gene fu-sions in our hospital in May 2009 to July 201 5. Results 8 cases were diagnosed by pathology and immunohistochemistry and treated with operation,3 cases with auxiliary targeted therapy.Patients were followed up for 3 to 69 months,and 5 patients were alive without tumor,and 3 patients died from recurrence. Conclusions Renal cell carcinoma associated with Xp1 1.2 translocation/TFE3 gene fusion is a rare subtype with poor prognosis in adult patients.The prognosis could be effectively improved by early diagnosis,active treatment and close follow-up.