[Clinical features of renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene fusions-single-center study].

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.