Xp11.2易位/TFE3基因融合相关性肾癌8例报告并文献复习

Renal carcinoma associated with XP11.2 translocation/TFE3 gene fusion:report of eight cases and literature review

目的:探讨Xp11.2易位/TFE3基因融合相关性肾癌(Xp11.2肾癌)成人患者的诊断及治疗经验。方法:回顾性分析我院2012年10月~2016年11月行手术治疗的8例Xp11.2肾癌成人患者的临床资料。其中男4例,女4例;年龄21~70岁,平均27.7岁。病灶位于左肾者3例,右肾者5例。3例行后腹腔镜保留肾单位手术(NSS),肿瘤最大径为2~4cm,平均3.2cm;5例行后腹腔镜肾癌根治性切除术(RN),肿瘤最大径为4~6cm,平均4.9cm,1例患者同时行肾静脉瘤栓取出术。结果:8例术后病理均为透明细胞癌,免疫组化示TFE3强阳性。病理分期:T_(1a)4例,T_(1a)伴肾门淋巴转移1例,T_(1b)期1例,T_2期伴淋巴转移1例,T_(3a)期1例。术后随访时间6~33个月,RN组有1例患者在术后6个月出现肺转移,术后11个月死亡。其他均无复发或转移。所有患者均未行化疗或靶向药物等辅助治疗。结论:Xp11.2肾癌是一种罕见的肾癌亚型,免疫组化检测TFE3表达水平是目前最常用的诊断措施。Xp11.2肾癌常会引起局部淋巴结或远处器官转移,预后较差,RN是治疗该病最常用的手术方式,必要时应同时行淋巴结清扫术。

Objective：To explore the diagnosis and treatment of renal cell carcinoma associated with Xp11.2translocation/TFE3gene fusion（Xp11.2renal cell carcinoma）in adult patients.Method：Clinical data of eight cases of Xp11.2renal cell carcinoma who received surgical treatment from October 2012to November 2016were retrospectively analyzed.Among these cases,4cases were male,others were female,aged 21to 70years old,the average age of 27.7years old.Lesions were located in the left kidney in 3cases,the right kidney in 5cases.Three patients underwent NSS,the largest diameter of the tumor was 2-4cm,with an average of 3.2cm.Five patients underwent radical nephrectomy（RN）with a maximum diameter of 4-6cm and an average of 4.9cm.One patient underwent thrombectomy of renal vein meanwhile.Result：Postoperative pathological result showed eight cases were all clear cell carcinoma,and immunohistochemistry showed strong positive of TFE3.Pathological stage were4cases of T（1a）,1case of T（1a）with renal lymph node metastasis,1case of T（1b）,1case of T（2 ）with lymph node metastasis and 1case of T（3a）.The patients were followed up for 6to 33months.One patient who underwent RN had lung metastasis at 6months and died at 11months postoperatively.No recurrence or metastasis was found in other cases.All patients did not receive adjuvant chemotherapy or targeted drugs.Conclusion：Xp11.2renal cell carcinoma is a rare subtype of renal cell carcinoma.Immunohistochemical detection of TFE3expression is the most commonly used diagnostic measure.Xp11.2renal cell carcinoma often cause metastasis of local lymph node or distant organ,which has poor prognosis.RN is the most commonly used surgical treatment of the disease and lymph node dissection should also be carried out,if necessary.