Clinicopathological Features And Prognosis Of Adult Xp11.2 Translocation/TFE3 Gene Fusion Associated Renal Cell Carcinoma (Report Of Seven Cases And Literature Review)

Objective: To explore the clinicopathological features and prognosis of adult Xp11.2 translocation renal cell carcinoma.Methods: Clinical data of 7 patients with Xp11.2 translocation renal cell carcinoma were retrospectively analyzed in the Department of Urology,the First Affiliated Hospital of Guangxi Medical University from January 2012 to December 2018.Among these cases,3 cases were male,4 cases were female;Aged 17 to 62 years old,the average age of(35.57 ± 15.78)years old;The clinical symptoms included painless gross hematuria in 1 case,lumbar pain in 3 case,gross hematuria with lumbar pain in2 case and abdominal mass in 1 case.1 case were diagnosed with liver and lung metastases.Results: The tumor diameter was 3～10cm,with an average of(5.9±2.6)cm.7 patients underwent radical resection of renal cell carcinoma.2patients underwent interleukin therapy,1 patient received targeted drug therapy with interferon and sorafenib after pulmonary metastasis,and 4 cases without adjuvant therapy.Postoperative pathology showed that 7 cases were Xp11.2translocation renal cell carcinoma.The patients were followed up for 20～85months,with an average of(42±21.3)months.4 cases were followed up for survival,3 died,and there were no lost cases.Conclusion: Combined with the literature,adult Xp11.2 translocation renal cell carcinoma is clinically rare,with no specific clinical manifestations.The imaging features are not obvious,and the diagnosis requires pathological immunohistochemistry and FISH detection.The treatment is mainly surgery,and the first choice for adults is RN.Patients with lymphatic or distant metastases have rapid disease progression and targeted drug therapy is effective.Its clinical prognosis is poor,and early diagnosis,active treatment,and regular follow-up can improve the prognosis.