Xp11.2易位/TFE3基因融合相关性肾细胞癌的诊断及治疗

孙东瑞; 顾晓; 杨进; 李翠蓉

doi:10.7619/jcmp.20200991

Xp11.2易位/TFE3基因融合相关性肾细胞癌的诊断及治疗

Diagnosis and treatment of renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene fusion

摘要

摘要:
目的探讨Xp11.2易位/TFE3基因融合相关性肾细胞癌（Xp11.2 RCC）的临床特点及其诊治方法。
方法回顾性分析2例Xp11.2 RCC成人患者的临床资料，包括该类型肾癌的临床表现、影像学特点、诊断及治疗方法。
结果 2例均为男性，年龄分别为76岁、21岁，无明显特异性临床表现，行腹腔镜下根治性肾切除术后病理结果均提示Xp11.2 RCC。2例随访时间分别为7、19个月，术后恢复及预后良好，未见肿瘤复发及转移表现。
结论 Xp11.2 RCC临床较为罕见，缺乏特异性临床表现，诊断主要通过免疫组织化学（IHC）和荧光原位杂交（FISH）检测结果以及参考影像学特点。治疗方式主要为根治性肾切除术，术后辅助治疗的作用尚未完全明确。2例短期随访预后较好，但远期预后结果尚不确定。

Abstract:
Objective To explore the clinical features of Xp11.2 translocation/TFE3 gene fusion-related renal cell carcinoma (Xp11.2 RCC) and its diagnosis as well as treatment.
Methods The clinical data of two adult patients with Xp11.2 RCC was retrospectively analyzed, including the clinical manifestations, imaging features, diagnosis and treatment of this type of renal carcinoma.
Results Both cases were male, aged 76 years and 21 years respectively, with no obvious specific clinical manifestations, and the pathological results after laparoscopic radical nephrectomy indicated Xp11.2 RCC. The two cases were followed up for 7 and 19 months, respectively. The postoperative recovery and prognosis were good, and no tumor recurrence and metastasis were observed.
Conclusion Xp11.2 RCC is rare and lacks specific clinical manifestations. Its diagnosis is mainly based on immunohistochemistry (IHC) and fluorescence in situ hybridization (FISH) test results and imaging features. The main treatment is radical nephrectomy, and the role of adjuvant therapy after surgery has not been fully defined. Short-term follow-up shows good prognosis in two cases, but the long-term prognosis is still uncertain.

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