25例转移性Xp11.2/TFE3易位相关性肾细胞癌临床分析

Clinical analysis of 25 patients with metastatic Xp11.2/TFE3 translocation-related renal cell carcinoma

目的探讨转移性Xp11.2/TFE3易位性肾细胞癌的临床特征、诊断及预后影响因素。方法回顾性分析郑州大学第一附属医院2013年1月至2021年6月收治的25例转移性Xp11.2/TFE3易位性肾细胞癌患者,收集患者临床表现、体格检查、影像学检查结果、手术方式、辅助治疗方案及病理学检查结果等临床资料,随访患者的预后,总结转移性Xp11.2/TFE3易位性肾细胞癌临床特征,对相关数据进行生存分析。结果收集经病理确诊为转移性Xp11.2/TFE3易位性肾细胞癌患者共25例。男18例,女7例,男女比例为2.571.00。患者年龄12~63岁,中位年龄32岁。出现肉眼血尿13例(52.0%)。1例行计算机断层扫描引导下肾癌射频消融术,其余24例均行手术治疗,其中15例患者术后行辅助治疗。病理结果均提示为Xp11.2/TFE3易位性肾细胞癌。纳入研究的25例Xp11.2/TFE3易位性肾细胞癌患者中有5例(20.0%)失访,9例(45.0%)至2021年12月31日随访结束仍生存,11例(55.0%)患者因Xp11.2/TFE3易位性肾细胞癌转移而死亡。20例转移性Xp11.2/TFE3易位性肾细胞癌总生存时间为5~65个月,中位总生存时间42个月。Xp11.2/TFE3易位性肾细胞癌患者1、2、5 a疾病特异性生存率分别为70.0%、60.0%、50.0%。对收集的资料进行单因素生存分析,瘤体最长直径>7 cm是转移性Xp11.2/TFE3易位性肾细胞癌患者的预后危险因素(=4.078,P=0.043)。结论转移性Xp11.2/TFE3易位性肾细胞癌临床发病率较低,诊断主要依靠特征的影像学表现结合其免疫组化染色及荧光原位杂交技术确诊实验,手术主要以患肾根治性切除术为主,靶向药物治疗优于其他辅助治疗,短期随访预后尚可。

Objective To investigate its clinical features,diagnosis and prognostic factors of metastatic Xp11.2/TFE3 translocation renal cell carcinoma.Methods A retrospective analysis was made of 25 patients with metastatic Xp11.2/TFE3 translocation renal cell carcinoma admitted to the First Affiliated Hospital of Zhengzhou University from January 2013 to June 2021.The clinical manifestations,physical examinations,imaging examination results,surgical methods,adjuvant therapy regimens,pathological examination results and other clinical data were collected,the prognosis of patients was followed up,the clinical diagnosis and treatment characteristics of metastatic Xp11.2/TFE3 translocation renal cell carcinoma were summarized,and the related data were analyzed for survival.Results A total of 25 patients with metastatic Xp11.2/TFE3 translocation renal cell carcinoma diagnosed by pathology were collected.There were 18 patients of males and 7 patients of females,with a male-to-female ratio of 2.57GA6FA1.00.The median age of the patients was 32 years old,the age range was 12 years old to 63 years old.13 patients(52.0%)had gross hematuria.One patient underwent computed tomography-guided radiofrequency ablation of renal cancer,and the remaining 24 patients underwent surgery,15 patients underwent postoperative adjuvant therapy.The pathological results all suggested Xp11.2/TFE3 translocation renal cell carcinoma.Among the 25 patients with Xp11.2/TFE3 translocation renal cell carcinoma included in the study,5 patients(20.0%)were lost to follow-up,and 9 patients(45.0%)survived until the end of follow-up on December 31,2021,11 patients(55.0%)died of metastatic Xp11.2/TFE3 translocation renal cell carcinoma.The overall survival of 20 patients of metastatic Xp11.2/TFE3 translocation renal cell carcinoma was 5-65 months,with a median overall survival of 42.0 months.The 1-,2-,and 5-year disease-specific survival rates of Xp11.2/TFE3 translocation renal cell carcinoma patients were 70.0%,60.0%,and 50.0%,respectively.Univariate survival analysis of the collected data showed that the longest tumor diameter>7 cm was a prognostic risk factor for patients with metastatic Xp11.2/TFE3 translocation renal cell carcinoma(χ^(2)=4.078,P=0.043).Conclusion The clinical incidence of metastatic Xp11.2/TFE3 translocation renal cell carcinoma is low,and the diagnosis mainly depends on the characteristic imaging findings combined with its immunohistochemical staining and fluorescence in situ hybridization diagnostic test.Radical resection is the main method,and targeted drug therapy is better than other adjuvant therapy.The prognosis is acceptable in short-term follow-up.