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目的:探讨成人Xp11.2/TFE3基因融合相关性肾细胞癌(TFE3 RCC)的临床病理特征及预后。方法:回顾性分析2013年1月至2021年2月浙江大学医学院附属第一医院收治的55例TFE3 RCC患者的临床资料。男26例，女29例；年龄(40.6±14.7)岁。中位肿瘤直径4.0(1.9～20.0)cm；肿瘤位于左肾30例(54.5%)，右肾25例(45.5%)。术前影像学检查示，肿瘤边界清晰41例(74.5%)，边界不清14例(25.5%)；存在局部淋巴结转移2例；远处转移2例，其中双肺转移1例，骨转移1例。术前分期：Ⅰ期38例(69.1%)，Ⅱ期5例(9.1%)，Ⅲ期9例(16.4%)，Ⅳ期3例(5.5%)。行保留肾单位手术31例(56.4%)，根治性肾切除术24例(43.6%)。采用Kaplan-Meier法绘制无进展生存曲线，采用log-rank法进行检验；多因素分析采用Cox比例风险回归模型，分析无进展生存的影响因素。结果:术后病理分期：pTn 1期41例(74.5%)，pTn 2期5例(9.1%)，pTn 3期8例(14.5%)，pTn 4期1例(1.8%)。Nn 1期4例(7.3%)，Mn 1期2例(3.6%)。免疫组化染色检查结果示，55例TFE3均呈弥漫性强阳性反应，组织蛋白酶K阳性36例(65.5%)，CD10阳性48例(87.3%)，CK7阳性7例(12.7%)，CA-IX阳性2例(3.6%)，PAX8阳性35例(63.6%)。2例行荧光原位杂交(FISH)检测，均为阳性，显示分裂信号的细胞核占比分别为40%和30%。55例中位随访时间27(3～96)个月。生存曲线分析结果显示，3年和5年无进展生存率分别为80.0%和64.0%。单因素分析结果显示肿瘤大小(n P＝0.009)、pT分期(n P<0.001)、局部淋巴结侵犯(n P＝0.003)、手术方式(n P＝0.006)与TFE3 RCC患者的预后相关。多因素分析结果显示，pT分期(n HR＝4.824，95%n CI 1.129～20.604，n P＝0.034)和局部淋巴结侵犯(n HR＝5.522，95%n CI 1.066～28.611，n P＝0.042)是影响TFE3 RCC患者无进展生存的独立预后因素。分层分析结果显示，对于pTn 1期患者，手术方式对患者预后的影响差异无统计学意义(n P＝0.091)；行保留肾单位手术和根治性肾切除术患者的3年无进展生存率分别为94.7%和81.5%。n 结论:TFE3 RCC影像学检查常缺乏特征性表现，病理免疫组化染色和FISH检查是确诊的主要依据。大部分TFE3 RCC患者手术治疗预后较好，pT分期和局部淋巴结侵犯是TFE3 RCC患者预后的独立影响因素。“,”Objective:To investigate the clinicopathological features and prognosis of adult Xp11.2/TFE3 gene fusion-associated renal cell carcinoma (TFE3 RCC).Methods:The clinical data of 55 patients with TFE3 RCC admitted to the First Affiliated Hospital of Zhejiang University Medical College from January 2013 to February 2021 were retrospectively analyzed, including 26 males and 29 females. The patients’ mean age was (40.6 ± 14.7) years. The median tumor size was 4.0 (1.9-20.0) cm. Tumors were located in the left kidney in 30 cases (54.5%) and the right kidney in 25 cases (45.5%). Preoperative imaging assessment was well-circumscribed in 41 patients (74.5%) and ill-defined in 14 patients (25.5%). There were 2 cases of regional lymph node metastasis and 2 cases of distant metastasis, including 1 case of lung metastasis and 1 case of bone metastasis. Preoperative staging included stage I in 38 patients (69.1%), stageⅡ in 5 patients (9.1%), stage Ⅲ in 9 patients (16.4%), and stageⅣin 3 patients (5.5%). Nephron-sparing surgery was performed in 31 patients (56.4%) and radical nephrectomy in 24 patients (43.6%). Progression-free survival curves were plotted by the Kaplan-Meier method and analyzed by the log-rank test. Cox proportional hazards regression model was applied for multivariate analysis of factors influencing progression-free survival.Results:Postoperative pathological stage included pTn 1 in 41 patients (74.5%), pTn 2 in 5 patients (9.1%), pTn 3 in 8 patients (14.5%), and pTn 4 in 1 patient (1.8%). Four patients (7.3%) had Nn 1 stage and 2 (3.6%) had Mn 1 stage. After immunohistochemical analysis, TFE3 showed diffuse strong positive reaction in 55 patients, cathepsin K positive in 36 patients (65.5%), CD10 positive in 48 patients (87.3%), CK7 positive in 7 patients (12.7%), CA-IX positive in 2 patients (3.6%), and PAX8 positive in 35 patients (63.6%). Two cases were tested by fluorescent in situ hybridization (FISH), and the results were positive. The proportion of nuclei with mitotic signals was 40% and 30%, respectively. The median follow-up time was 27 (3-96) months. The results of survival analysis showed that the 3-year and 5-year progression-free survival rates were 80.0% and 64.0%, respectively. The results of univariate analysis showed that tumor size (n P = 0.009), pT stage (n P<0.001), regional lymph node invasion (n P = 0.003), and surgical approach (n P = 0.006) were associated with the prognosis of TFE3 RCC patients. Multivariate analysis of the Cox model was performed on significant univariate factors, and its results showed that pT stage (n HR=4.824, 95% n CI 1.129-20.604, n P=0.034) and regional lymph node invasion (n HR=5.522, 95% n CI 1.066-28.611, n P = 0.042) were independent prognostic factors for progression-free survival in TFE3 RCC patients. The results of stratified analysis showed that for patients with pTn 1 disease, the effect of surgical approach on the prognosis of patients was not statistically significant (n P=0.091). The 3-year progression-free survival rates for nephron-sparing surgery and radical nephrectomy were 94.7% and 81.5%, respectively.n Conclusions:Given that TFE3 RCC imaging studies often lack characteristic features, diagnosis mainly relies on immunohistochemical analysis and FISH tests. Most of the patients with TFE3 RCC have a better prognosis after surgical treatment. However, pT stage and regional lymph node invasion were prognostic factors in patients with TFE3 RCC.