Xp11.2易位/TFE3基因融合相关性肾癌六例报告并文献复习  

Report of 6 cases of Xp11.2 translocation renal cell carcinoma and literature review

作　　者：东洁[1] 陈博[2] 李汉忠[1] 纪志刚[1] 徐维锋[1] 

机构地区：[1]中国医学科学院北京协和医学院北京协和医院泌尿外科,100730 [2]中国医学科学院北京协和医学院北京协和医院病理科,100730

出　　处：《中华泌尿外科杂志》2016年第10期745-748,共4页Chinese Journal of Urology

摘　　要：目的 探讨Xp1 1.2易位/TFE3基因融合相关性肾癌患者的临床病理特点.方法 对2011年1月至2015年12月收治的肾癌患者进行筛选,共发现6例Xp11.2易位/TFE3基因融合相关性肾癌患者.男2例,女4例.年龄16 ～73岁,平均39岁.肿瘤直径1.9 ～19.0 cm,平均9.6 cm.其中3例常规查体发现,1例因严重贫血（Hb 66g/L）、1例因肉眼血尿、1例因腰部不适就诊.就诊时2例分别有局部淋巴结和肾盂受侵,1例有远处转移（肺转移）.CT检查示肾脏软组织密度/低密度占位,增强扫描呈明显强化或不均匀强化,均考虑恶性可能.6例均接受手术治疗,其中行根治性肾切除术5例,肾部分切除术1例.结果 6例术后行病理检查,镜下观察肿瘤组织透明细胞大多排列成乳头状、巢团样结构,伴砂粒体形成.免疫组化染色检查TFE均阳性,AE1/AE3、RCC、Vimentin、CD10、EMA、P504等呈不同程度阳性表现.术后病理诊断均为Xp11.2易位/TFE3基因融合相关性肾癌.术后2例接受白细胞介素-2治疗,2例接受靶向药物治疗（舒尼替尼）,1例接受局部放疗.随访9 ～56个月,平均37个月.1例术后22个月死于肿瘤多发转移;1例术后12个月出现肺部转移,接受靶向药物治疗后,肿瘤无明显进展;余患者一般情况尚可.结论 Xp11.2易位/TFE3基因融合相关性肾癌好发于儿童和青少年,CT动脉期强化略低于肾透明细胞癌,组织学特点及免疫组化染色检测TFE3阳性表达是诊断该病的重要手段,必要时可行基因检测以明确诊断.手术是首选的治疗选择.已有转移的患者预后较差,需要辅以靶向药物治疗.Objective To explore the clinical and pathological characters of Xp1 1.2 translocation renal cell carcinoma.Method We screened patients of renal cell carcinoma of PUMCH between Jan.2011 and Dec.2015,6 patients with Xp11.2 translocation renal cell carcinoma were found.There were 2 males and 4 females,with average age of 39 （ranging from 16 to 73 years old）.Diameter of tumor ranged from 1.9cm to 19.0cm,and 9.6cra in average.Among which,3 cases were detected by routine physical examination,1 by severe anemia （Hb 66g/L）,1 by gross hematuria,and 1 by flank discomfort.Before treatment,2 cases had local metastasis （local lymph node,renal pelvis invasion）,1 had distant metastasis （pulmonary metastasis）.CT examination showed that the tumors had soft tissue density / low density,with significant enhancment or uneven enhancement in enhanced scanning,and were all considered malignancy.6 patients were all treated with surgeries,of which 5 patients received radical nephrectomy,1 patient received nephron sparing surgery.Result Pathologically,most clear cells arranged in a papillary,nest like structure,with psaamoma bodies in them.Immunohistochemical examination showed that all patients were positive for TFE3.AE1/AE3,RCC,Vimentin,CD10,EMA,P504 were positive in different degree.According to pathological result,all 6 patients were proved to be Xp1 1.2 translocation renal cell carcinoma.After surgery,2 patients received immunotherapy,2 received targeted drug therapy,and 1 received local radiotherapy.The follow-up duration ranged from 9 to 56 months （average 37 months）.Among which,1 patient died from tumor recurrence and multiple metastasis 22 months after surgery,1 had pulmonary metastasis 12 months after surgery,and the tumor had no significant progress after receiving targeted drug therapy.All the other patients survive without tumor recurrence.Conclusions Xp1 1.2 translocation renal cell carcinoma predominantly occurs in children and adults younger than 40 years.Arterial phase enhancement is slightly lower fo

关 键 词：Xp11.2易位/TFE3基因融合相关性肾癌 手术 靶向药物 转录因子E3 预后 

分 类 号：R737.11[医药卫生—肿瘤]