Ma W L, Liu N, Zhuang W Y, Li X G, Zhang G T, Gan W D, Guo H Q
Department of Urology, Clinical Medical School of Nanjing Medical University, Nanjing 210008, China.
Zhonghua Yi Xue Za Zhi. 2018 Oct 16;98(38):3068-3073. doi: 10.3760/cma.j.issn.0376-2491.2018.38.005.
To analyze the clinical characteristics, treatment methods and prognosis of renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene fusions (Xp11.2 tRCC). 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. 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) (<0.05). Multivariate analysis indicated that AJCC stage (=0.023, 95% : 0.048-0.081)and vein tumor thrombosis (=0.046, 95% : 1.004-1.590)were independent prognostic factors of PFS. 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.
分析Xp11.2易位/TFE3基因融合相关性肾细胞癌（Xp11.2 tRCC）的临床特征、治疗方法及预后。回顾性分析2007年1月至2018年2月在南京鼓楼医院确诊的48例Xp11.2 tRCC患者的流行病学特征、治疗方法及长期随访结果。48例患者中，女性20例，男性28例，年龄2至72岁。肉眼血尿和腰痛是最常见的症状，分别发生于14例和8例。48例患者肿瘤平均大小为（5.3±2.5）cm。34例Ⅰ/Ⅱ期患者中，14例行腹腔镜肾部分切除术（NSS），20例行根治性肾切除术（RN）。另14例Ⅲ/Ⅳ期患者均行RN，但有1例接受了靶向治疗。单因素分析显示，肿瘤直径、辅助治疗、美国癌症联合委员会（AJCC）分期、淋巴结转移及静脉瘤栓与无进展生存期（PFS）和总生存期（OS）相关（<0.05）。多因素分析表明，AJCC分期（=0.023，95%：0.048 - 0.081）和静脉瘤栓（=0.046，95%：1.004 - 1.590）是PFS的独立预后因素。Xp11.2 tRCC主要发生于女性。RN是Xp11.2 tRCC的主要治疗方法。然而，对于T1a期病例，NSS也可取得满意效果。AJCC分期高及出现静脉瘤栓提示预后不良。
