Xpll. 2 translocation in children with renal cell carcinoma

Objective To explore the unique biological, histological and clinical features of Xp11.2 translocation in pediatric renal cell carcinoma （RCC）. Methods Retrospective reviews and biological analyses were performed for 24 Xp11. 2 translocation RCC cases at Beijing Children＇s Hospital from January 1973 to June 2013. Results There were 13 boys and 11 girls with a median age of 10. 2 （2. 5-16） years. Hematuria occurred in 19 cases, including post-trauma hematuria （n = 1）, abdominal mass with hematuria （n = 2）, abdominal mass （n = 1）, abdominal pain with hematuria （n = 1） and incidental finding （n = 1）. According to TNM staging system, there were stage I （n = 11）, stage Ⅲ（n = 11） and stage Ⅳ （n = 2）. Among 11 stage I RCCs, 4 patients with tumor 〈7 cm underwent nephron-sparing surgery. And 18 patients underwent simple nephrectomy. One patient with a 15 cm tumor surrounding abdominal aorta and inferior vena cava had incomplete removal. Another patient with a 25 cm tumor had gross residue. The mean diameter of tumor was 7. 2 （2. 5- 25. 0） crn. And 17 patients were followed up for 6 months to 35 years. There were 15 survivors and 2 died postoperatively. Conclusions As a predominant form of pediatric RCC, Xpll. 2 translocation RCC has an advanced stage at presentation. However, its prognosis is not significantly different from that of other types of RCC. The preoperative diagnosis is rather difficult for a lack of specific clinical manifestations and imaging characteristics. Nephrectomy is routine treatment for RCC while nephron sparing surgery is reserved for patients with tumor 〈7 crm Key words: Carcinoma;  renal cell Translocation;  genetic Gene fusion