Xp11.2 translocation/TFE3 fusion-associated renal cell carcinoma in children: Diagnosis and treatment of 5 cases
LIU Miaoqing1, ZHOU Pingjiang1, 2, XU Lei1, CHEN Congde1, LI Zhongrong1.
1.Department of Pediatric Surgery, the Second Affiliated Hospital & Yuying Children’s Hospital of Wenzhou Medical University,Wenzhou 325027, China; 2.Department of Surgery, Hubei Maternal and Child Health Hospital, Wuhan 430064,China
LIU Miaoqing,ZHOU Pingjiang,XU Lei, et al. Xp11.2 translocation/TFE3 fusion-associated renal cell carcinoma in children: Diagnosis and treatment of 5 cases[J]. JOURNAL OF WEZHOU MEDICAL UNIVERSITY, 2024, 54(6): 482-486.
Abstract：Objective: To summarize the clinical characteristics of pediatric renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene fusion for the better understanding of its features. Methods: A retrospective analysis was conducted on the data of 5 children diagnosed with Xp11.2 translocation/TFE3 gene fusion-associated renal cell carcinoma treated in the Second Affiliated Hospital of Wenzhou Medical University from January 2015 to December 2023, combined with a literature review to analyze its clinical characteristics. Results: Of the 5 cases, 1 was male and 4 females, with the onset age ranging from 5 to 15 years old and a median age of 11 years.Tumors were located in the left kidney in 2 cases and in the right kidney in 3 cases. Initial symptoms included gross hematuria in 1 case, abdominal distension in another, incidental findings during physical examinations in 2 cases, and post-exercise lumbar and abdominal pain in 1 case. Four children underwent radical nephrectomy,and one received partial nephrectomy. No complications occurred in any of the surgeries. Postoperative immunohistochemical staining showed TFE3 positive in all children. One child was lost to follow-up after surgery,and the remaining 4 were followed up for 3 months up to 6.5 years. One child died two years after receiving sunitinib targeted therapy postoperatively, while the remaining three did not receive chemotherapy or targeted therapy and had no recurrence or metastasis after surgery. Conclusion: Although pediatric renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene fusion is rare, it has a relatively good prognosis. Imaging for identifying lesion locations has limited specificity; its diagnosis relies mainly on immunohistochemistry. Radical nephrectomy serves as an effective primary treatment option.
