| ObjectiveXp11.2 translocation/TFE3 gene fusion-associated renal cell carcinoma is a new subtype of renal tumors in the classification of WHO urinary and male reproductive tumors in 2004.This disease is rare and frequently occurs in children and youth.And the treatment program has not yet reached a consensus.This study explored the clinical features,diagnosis,treatment,and prognosis of Xp11.2 translocation/TFE3 gene-associated renal cell carcinoma in order to raise awareness of the disease and provide relevant diagnostic and treatment experience.Subjects and methodsFrom July 2012 to April 2017 in the First Affiliated Hospital of Zhengzhou University,26 cases of Xp11.2 translocation/TFE3 gene fusion-associated renal cell carcinoma patients were reviewed and their data were analyzed retrospectively,with 12 males and 14 females,aged 0.75~58 years with the average age(31.1±15.6)years.14 cases were under 30 years old.The tumors of 14 cases were located in the right kidney and 12 cases were in the left kidney.The tumor diameter was 2.6~16.0 cm with an average of(7.7±3.6)cm.The the clinical data,treatment methods,and prognosis were analyzed.ResultsIn 26 cases,all patients underwent surgery.There are 14 cases of radical nephrectomy,5 cases of radical nephrectomy and retroperitoneal lymphnode dissection,2 cases of cytoreductivenephrectomy and retroperitoneal lymphnode dissection,4 cases of nephron-sparing surgery,and 1 case of biopsy after CT-guided renal cell carcinoma radiofrequency ablation.Immunohistochemical staining was positive in TFE3(100.0%,26/26),CD10(92.3%,24/26),P504(69.2%,18/26),EMA(53.8%,14/26)and Vimentin(84.6%,22/26).All 26 patients were followed up for 3 to 46 months with a median follow-up of 17 months.We found 22 survivors and 4 deaths.2 cases of T4 were given targeted therapy and died of multiple metastases at 6 and 27 months after surgery.And 2 cases died of recurrence and lung metastasis at 15 and 21 months after surgery.ConclusionXp11.2 translocation/TFE3 gene fusion-associated renal cell carcinoma is a kind of rare malignant tumor of the kidney with a poor prognosis.This disease frequently occurs in children and youth.Genetic testing confirms that Xpll.2 translocation is the gold standard for the diagnosis of the disease.Surgery is the preferred treatment program.For patients with T4 disease supplemented with targeted drug therapy,the survival time can be prolonged,but due to the influence of targeted drugs on growth and development,children should be cautious when using drugs. |
