Objective: To analyze the clinical characteristics, treatment methods and prognosis of renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene fusions (Xp11.2 tRCC). Methods: From January 2007 to February 2018, 48 patients were diagnosed with Xp11.2 tRCC at Nanjing Drum Tower Hospital. The epidemiological features, treatment methods and long-term follow-up results were retrospectively reviewed. Results: Of the 48 patients, 20 cases were female and 28 cases were male, aged from 2 to 72 years. Gross hematuria and flank pain were the most frequent symptoms, which occurred on 14 cases and 8 cases respectively. The mean tumor size of 48 cases was (5.3±2.5)cm. Among the 34 cases who were classified as stageⅠ/Ⅱ, 14 cases received laparoscopic nephron-sparing surgery(NSS)and 20 cases received radical nephrectomy(RN). The other 14 cases who were classified as stage Ⅲ/Ⅳ received RN but one case received target therapy. On univariate analysis, tumor diameter, adjuvant treatment, AJCC stage, lymph node metastasis and vein tumor thrombosis showed association with progression-free survival (PFS) and overall survival (OS) (P<0.05). Multivariate analysis indicated that AJCC stage (P=0.023, 95% CI: 0.048-0.081)and vein tumor thrombosis (P=0.046, 95% CI: 1.004-1.590)were independent prognostic factors of PFS. Conclusions: Xp11.2 tRCC mainly occurs in females. RN was the major method for Xp11.2 tRCC. However, NSS can also receive satisficed results for stage T1a case. High AJCC stage and the occurrence of vein tumor thrombosis indicated poor prognosis.
目的: 探讨Xp11.2易位/TFE3基因融合相关性肾癌(Xp11.2 tRCC)的临床特征、治疗和预后。 方法: 对2007年1月至2018年2月南京鼓楼医院确诊的48例Xp11.2 tRCC的一般资料、病理资料、治疗方法及随访结果进行回顾性分析。 结果: 48例Xp11.2 tRCC患者中男20例,女28例,患者年龄2~72岁,临床以肉眼血尿(14例)和腰腹痛(8例)为主要表现,肿瘤直径(5.3±2.5)cm。美国癌症联合委员会(AJCC)分期Ⅰ/Ⅱ期患者34例,其中14例接受了保留肾单位切除术,20例接受了根治性切除术;Ⅲ/Ⅳ期患者13例行根治性切除术,1例仅靶向治疗。生存分析显示肿瘤大小、辅助治疗、静脉癌栓、AJCC分期、淋巴结转移与总体生存期和无进展生存期相关(均P<0.05),其中美国癌症联合委员会(AJCC)分期(P=0.023,95% CI:0.048~0.081)和静脉癌栓(P=0.046, 95% CI:1.004~1.590)是无进展生存期的独立危险因素。 结论: Xp11.2 tRCC好发于女性,根治性手术是Xp11.2 tRCC主要的治疗方法,但T1a患者可行保留肾单位手术;静脉癌栓和淋巴结转移是患者预后独立危险因素。.
Keywords: Diagnosis; Epidemiology; Kidney Neoplasms; Prognosis; Therapeutics.