成人Xp11.2易位/TFE3基因融合相关性肾细胞癌18例临床分析

A clinical analysis of adult renal cell carcinoma associated Xpll.2 translocation/TFE3 gene fusion:A report of 18 cases

目的通过收集成人Xp11.2易位/TFE3基因融合相关性肾细胞癌(简称Xp11.2肾细胞癌)的相关数据,探讨其临床特征、治疗方法及预后。方法回顾性分析我院2015年1月至2019年5月收治的18例成人Xp11.2肾细胞癌患者的临床资料及随访信息,结合最新文献,总结其临床特征、治疗和预后。结果 18例患者中,男性8例,女性10例;左侧11例,右侧7例;平均年龄(48.00±15.18)岁,主要症状为肉眼血尿和腰痛。其中10例接受开放性肾癌根治术,7例行后腹腔镜下肾癌根治术,1例行肿瘤姑息性切除;术后病理均诊断为Xp11.2肾细胞癌。18例患者术后平均随访时间为(20.83±18.24)个月,其中4例患者因肿瘤复发或转移死亡,1例肝转移正在接受治疗,其余13例患者预后良好。结论成人Xp11.2肾细胞癌是一种临床罕见的肾恶性肿瘤,其诊断需要结合影像学资料、组织病理学特点以及免疫组化和基因检测结果,肾癌根治术是其首选的治疗方式。

Objective To explore the clinical features,treatment and prognosis of adult renal cell carcinoma associated Xpll.2 translocation/TFE3 gene fusion(Xpll.2 RCC).Methods The clinical and follow-up information of 18 adult patients with Xpll.2 RCC treated in our hospital during Jan.2015 and May 2019 were retrospectively analyzed.The clinical features,treatment and prognosis were summarized and the latest literature was reviewed.Results There were 8 males and 10 females,average age(48.00±15.18)(ranging 19-69) years.The RCC was on the left side in 11 cases and on the right side in 7 cases.The main clinical symptoms were gross hematuria and low back pain.Open radical nephrectomy was performed in 10 cases,laparoscopic radical nephrectomy in 7 cases,and tumor palliative resection in 1 case.Pathology confirmed all cases were Xpll.2 RCC.During the follow-up of(20.83±18.24)(ranging 3-54) months,4 patients died of tumor recurrence or metastasis,1 patient with liver metastasis was under treatment,and the other 13 patients had good prognosis.Conclusion Adult Xpll.2 RCC is a rare renal malignant tumor,whose diagnosis needs imaging,histopathological and gene detection data.Radical nephrectomy is the first choice of treatment.