Xp11.2易位/TFE3基因融合相关性肾癌3例临床特征及文献回顾

Renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene fusions:clinical characteristics of 3 cases and literature review

目的探讨Xp11.2易位/TFE3基因融合相关性肾癌的临床特征、治疗及预后。方法收集2008年6月至2014年10月期间北京大学人民医院诊断的Xp11.2易位/TFE3基因融合相关性肾癌共3例,总结其临床资料,并结合国内外相关文献,总结该病的临床表现、实验室检查和影像学检查特点、治疗方法及预后。结果 3例患者中,男2例女1例,平均年龄32.2岁（20~47岁）,表现为腰痛、腹痛、发热、体重减轻、骨痛等症状,CT均提示肾占位;2例接受肾根治性切除术,1例接受骨转移癌切除术,病理均提示肾细胞癌,免疫组化TFE3（＋）。3例患者均获得随访,2例预后较好。结论 Xp11.2易位/TFE3基因融合相关性肾癌临床罕见,好发于年轻人,诊断主要依靠肿瘤的组织病理学特征和免疫组化TFE3（＋）,荧光原位杂交技术（FISH）可作为其确诊标准,治疗以手术切除为主,总体预后较差,术后需长期随访。

Objective To explore the clinical characteristics of renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene fusions.Methods All patients diagnosed as renal cell carcinoma during Jun.2008 and Oct.2014 in our hospital were included.Among them,3 cases were identified as renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene fusions.We analyzed their medical records and summarized the clinical,laboratory,and imaging features,and reviewed the recent literature.Results The patients included2 male and1 female,with a median age of 32.2 years old（20-47 year）.They mainly complained of flank pain,abdominal pain,fever,weight loss and ostealgia.Computed tomography（CT）imaging indicated renal mass in all 3 cases.Two of the patients received radical nephrectomy and another one received surgery to remove the metastatic carcinoma of bone.The pathological examinations indicated renal cell cancer and immunohistochemical examinations showed TFE3 positive in all 3 cases.All 3 cases were followed up carefully and 2 of them showed a good prognosis.Conclusions Renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene fusions is a newly defined rare entity with a high incidence in young patients.The diagnosis mainly depends on histopathological characteristics of tumor,TFE3 positive in immunohistochemistry,and fluorescence in situ immune（FISH）technique.Radical nephrectomy should be considered for the most appropriate treatment of this tumor.Due to the poor prognosis of this tumor,long-term postoperative follow-up is necessary.