Xp11.2易位/TFE3基因融合相关性肾癌两例报告并文献复习

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摘要目的:探讨肾癌的罕见类型Xp11.2易位/TFE3基因融合相关性肾癌的临床病理特点、治疗及预后。方法:对本院确诊的2例Xp11.2易位/TFE3基因融合相关性肾癌的临床资料进行回顾性分析并对相关文献进行复习。结果:两例均为左侧,例1确诊时已有远处转移,采用左肾姑息性切除术,例2采用根治性左肾切除术,免疫组化染色检查均表达TFE3。例1术后随访11个月,病情进展,骨转移加重;例2术后随访12个月,未见复发及远处转移。结论:Xp11.2易位/TFE3基因融合相关性肾癌是由Xp11.2染色体易位,导致转录因子E3(TFE3)基因与多种不同的基因融合的罕见肾癌,淋巴结转移多见,恶性程度较高,结合组织学特征、免疫组化检测TFE3(+)、荧光原位杂交技术有助于确诊,靶向治疗此类型肾癌可能有一定疗效,外科手术是治疗此类型肾肿瘤的首选和根治性治疗方案。

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	杨昭伟孔雪魏文焕孙丹殷磊李泽良孔垂泽

关键词 ： Xp11.2易位, TFE3基因融合, 肾肿瘤, 治疗

Abstract：Objective: To investigate the clinicopathologic features, treatment and prognosis of renal cell carcinoma associated with Xp11.2 translocations/TFE3 gene fusions. Methods: Two patients with renal cell carcinoma associated with Xp11.2 translocations/TFE3 gene fusions were diagnosed and treated in our institution, and the clinical data were retrospectively analyzed. Results: The renal cell carcinoma of 2 cases reported was located in the left kidney. Case one was diagnosed with distant metastasis and palliative surgery was performed. Case two was given the radical resection of the left kidney. Immunohistochemical examination showed that both patients were positive for TFE3. Two cases were postoperatively followed up for 12 months. The case one had stable clinical condition, and another had no recurrence and distant metastasis. Conclusions: Xp11.2 translocation-associated renal cell carcinoma (Xp11.2 RCC) is characterized by the gene fusions between the transcription factor E3 (TFE3), which is located on the chromosome Xp11.2 and a variety of fusion partners. Xp11.2 RCC is a newly defined rare entity with more lymph node metastasis and higher tumor stage. The diagnosis mainly depends on histopathological characteristics, TFE3-positive immune markers and fluorescence in situ hybridization technique. Patients with metastatic renal cell carcinoma associated with Xp11.2 translocations/TFE3 gene fusions could benefit from the target therapy. Surgery is the preferred and radical cure for this type of kidney neoplasms.

Key words： Xp11.2 translocation TFE3 gene fusion kidney neoplasms treatment

收稿日期: 2016-06-30

ZTFLH:

R737.11

基金资助:辽宁省科技计划项目(2009225033)

通讯作者: 李泽良,lzlurology@126.com

引用本文:

杨昭伟孔雪魏文焕孙丹殷磊李泽良孔垂泽. Xp11.2易位/TFE3基因融合相关性肾癌两例报告并文献复习[J]. 微创泌尿外科杂志, 2016, 5(5): 306-311.
Yang ZhaoweiKong Xue Wei Wenhuan Sun Dan
Yin Lei Li Zeliang Kong Chuize. Renal cell carcinoma associated with Xp11.2 translocations/TFE3
gene fusions: a study of 2 cases and review of literature. JOURNAL OF MINIMALLY INVASIVE UROLOGY, 2016, 5(5): 306-311.

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http://journal20.magtechjournal.com/Jwk_zgmnwk/CN/abstract/abstract1217.shtml 或 http://journal20.magtechjournal.com/Jwk_zgmnwk/CN/Y2016/V5/I5/306

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