Liu Ning, Wang Zhen, Gan Weidong, Xiong Lei, Miao Baolei, Chen Xiancheng, Guo Hongqian, Li Dongmei
Department of Urology, Nanjing Drum Tower Hospital, The Affiliated Hospital of Nanjing University Medical School, Nanjing, Jiangsu, China.
Immunology and Reproduction Biology Laboratory & State Key Laboratory of Analytical Chemistry for Life Science, Medical School, Nanjing University, Nanjing, Jiangsu, China.
PLoS One. 2016 Nov 28;11(11):e0166897. doi: 10.1371/journal.pone.0166897. eCollection 2016.
To investigate the clinical characteristics, treatments and prognosis of renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene fusions (Xp11.2 tRCC), the epidemiological features and treatment results of 34 cases of Xp11.2 tRCC, which were diagnosed by immunohistochemistry staining of TFE3 and fluorescence in situ hybridization at our center, were retrospectively reviewed. The 34 patients included 21 females and 13 males aged 3 to 64 years (median age: 27 years). Four patients were children or adolescents (<18 years of age), and 26 patients were young or middle-aged adults (18-45 years). Radical nephrectomy was performed on 25 patients. Laparoscopic nephron-sparing surgery was performed on 9 patients who presented with an isolated mass with a small diameter (<7 cm) and well-defined boundary on computed tomography imaging. Postoperative staging showed that 25 cases (73.53%) were at stage I/II, while 9 cases (26.47%) were at stage III/IV. All stage I/II patients received a favorable prognosis with a three-year overall survival rate of 100%, including the patients who underwent laparoscopic nephron-sparing surgery. With the exception of 2 children, the other 7 stage III/IV patients died or developed recurrence with a median follow-up of 29 months. On univariate analysis, maximum diameter, adjuvant treatment, TNM stage, lymph node metastasis, inferior vena cava tumor thrombosis and tumor boundary were identified as statistically significant factors impacting survival (P<0.05). Multivariate analysis indicated that TNM stage and inferior vena cava tumor thrombosis were independent prognostic factors (P<0.05). In conclusion, Xp11.2 tRCC is a rare subtype of renal cell carcinoma that mainly occurs in young females. Nephron-sparing surgery was confirmed effective preliminarily in the treatment of small Xp11.2 tRCCs with clear rims. Advanced TNM stage and inferior vena cava tumor thrombosis were associated with poor prognosis.
为探讨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，我们回顾性分析了在本中心经TFE3免疫组化染色及荧光原位杂交确诊的34例Xp11.2 tRCC患者的流行病学特征及治疗结果。34例患者中，女性21例，男性13例，年龄3至64岁（中位年龄：27岁）。4例为儿童或青少年（<18岁），26例为青年或中年成人（18 - 45岁）。25例行根治性肾切除术。9例计算机断层扫描成像显示为孤立性肿块、直径小（<7 cm）且边界清晰的患者行腹腔镜保留肾单位手术。术后分期显示，25例（73.53%）为Ⅰ/Ⅱ期，9例（26.47%）为Ⅲ/Ⅳ期。所有Ⅰ/Ⅱ期患者预后良好，三年总生存率为100%，包括接受腹腔镜保留肾单位手术的患者。除2例儿童外，其他7例Ⅲ/Ⅳ期患者在中位随访29个月时死亡或复发。单因素分析显示，最大直径、辅助治疗、TNM分期、淋巴结转移、下腔静脉肿瘤血栓形成及肿瘤边界是影响生存的统计学显著因素（P<0.05）。多因素分析表明，TNM分期及下腔静脉肿瘤血栓形成是独立的预后因素（P<0.05）。总之，Xp11.2 tRCC是肾细胞癌的一种罕见亚型，主要发生于年轻女性。保留肾单位手术初步证实对边界清晰的小Xp11.2 tRCC有效。TNM分期高及下腔静脉肿瘤血栓形成与预后不良相关。
