Xp11.2易位/TFE3基因融合相关性肾癌的临床病理特征分析  

Clinicopathological characteristics of Xp11.2 translocation/TFE3 gene fusion-associated renal cell carcinoma

作　　者：瞿元元[1] 张海梁[1] 叶定伟[1] 戴波[1] 朱耀[1] 顾成元[1] 顾伟杰[1] 常坤[1] 王弘恺[1] 

机构地区：[1]复旦大学附属肿瘤医院泌尿外科复旦大学上海医学院肿瘤学系,上海200032

出　　处：《中华泌尿外科杂志》2014年第9期641-644,共4页Chinese Journal of Urology

基　　金：国家自然科学基金（81202004;81001131;81370073）

摘　　要：目的 探讨Xp11.2易位/TFE3基因融合相关性肾癌的临床和组织病理特征. 方法 回顾性分析2009年1月至2013年7月收治的37例Xp11.2易位/TFE3基因融合相关性肾癌患者的资料.男17例,女20例.年龄3～73岁,中位年龄22岁.临床表现为无痛肉眼血尿和/或腰部酸痛18例,腹部肿块3例,无明显临床症状16例.3例确诊时已有远处转移,其中1例为颈部转移,2例为肝转移.37例均行手术治疗,其中29例行根治性肾切除术,4例行保留肾单位手术,4例行姑息性肾切除术.10例术后接受甲苯磺酸索拉非尼或舒尼替尼靶向治疗. 结果 37例术后病理均提示为Xp1 1.2易位/TFE3基因融合相关性肾癌.肿瘤最大径1～ 15 cm,平均6.5 cm.镜下观察瘤细胞胞质嗜酸性红染,间质内可见砂粒体结构等特征.37例免疫组化染色检查均表达TFE3,30例阳性表达CD10,28例阳性表达P504S,CK7、CK8、Vimentin和EMA呈不同程度阳性表达.术后随访1～55个月,中位随访22个月.33例生存,4例死于肾癌复发伴远处转移.3例确诊时已有远处转移者仍在接受靶向药物治疗,其中1例颈部转移者病情稳定,2例肝转移者病灶部分缓解. 结论 Xp11.2易位/TFE3基因融合相关性肾癌好发于年轻患者.结合年龄、组织学特点及免疫组化检测TFE3阳性表达等有助于临床诊断.对于转移性Xp11.2易位/TFE3基因融合相关性肾癌,靶向治疗有一定疗效.Objective To investigate the clinical and pathological characteristics of Xp11.2 translocation/TFE3 gene fusion-associated renal cell carcinoma.Methods Between Jan 2009 and Jul 2013,37 patients with Xp1 1.2 translocation/TFE3 gene fusion-associated renal cell carcinoma,consisting of 17 males and 20 females,were treated in our institution.The median age was 22 years old,which ranged from 3 to 73 years old.The clinical symptoms included painless gross hematuria and （or） flank pain in 18 cases,abdominal mass in 3 cases and no significant clinical presentation in 16 cases.3 patients were diagnosed with distant metastasis,including cervical metastasis in 1 case and hepatic metastasis in 2 cases.All patients were treated with surgical treatment,of which 29 patients received radical nephrectomy,4 patients received nephron sparing surgery and 4 patients received palliative nephrectomy.Of the 37 patients,10 cases received adjuvant sorafenib or sunitinib target therapy after surgery.Results The final pathological diagnosis was Xp11.2 translocation/TFE3 gene fusion-associated renal cell carcinoma in all patients.The maximum diameter of tumor ranged from 1 to 15 cm （mean 6.5 cm）.The pathological examination showed the tumor cells contained eosinophilic cytoplasm with psammoma bodies in renal interstitial tissue.Immunohistochemical examination showed that all patients were positive for TFE3,30 patients were positive for CD10,28 patients were positive for P504S and variably positive for CK7,CK8,Vimentin and EMA.The mean follow-up duration was 22 months （range,1-55 months）.33 patients survive and 4 patients died due to the tumor recurrence and systemic metastasis.As being treated with adjuvant target therapy,the patient with cervical metastasis has maintained stable,and another 2 patients with hepatic metastases have achieved partial remission.Conclusions Xp11.2 translocation/TFE3 gene fusion-associated renal cell carcinoma is a newly defined rare entity with a high predominance of young patients.The diagnosis mainl

关 键 词：肾肿瘤 Xp11.2易位 TFE3基因融合 

分 类 号：R737.11[医药卫生—肿瘤]