World J Clin Cases. Oct 6, 2022; 10(28): 10180-10185 Published online Oct 6, 2022. doi: 10.12998/wjcc.v10.i28.10180
Chemotherapy, transarterial chemoembolization, and nephrectomy combined treated one giant renal cell carcinoma (T3aN1M1) associated with Xp11.2/TFE3: A case report
Peng Wang, Xiao Zhang, Shuo-Han Shao, Fa Wu, Fei-Zhou Du, Jun-Feng Zhang, Zhi-Way Zuo, Rui Jiang
Peng Wang, Xiao Zhang, Shuo-Han Shao, Fa Wu, Fei-Zhou Du, Jun-Feng Zhang, Zhi-Way Zuo, Rui Jiang, Department of Radiology, The General Hospital of Western Theater Command, Chengdu 610083, Sichuan Province, China
Author contributions: Wang P and Jiang R designed the research study; Zhang X, Shao SH, Wu F, and Du FZ performed the research; Zhang JF and Zuo ZW collected clinical data and radiation images; Wang P analyzed the data and wrote the manuscript; all authors have read and approved the final manuscript.
Supported bythe Research and Development Program of The General Hospital of Western Theater Command, No. 2021-XZYG-C04 and 2021-XZYG-C05.
Informed consent statement: The patient provided informed written consent prior to study enrollment.
Conflict-of-interest statement: The authors declare that they have no conflict of interest.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Corresponding author: Rui Jiang, MM, Chief Doctor, Department of Radiology, The General Hospital of Western Theater Command, No. 270 Tianhui Road, Rongdu Avenue, Jinniu District, Chengdu 610083, Sichuan Province, China. jiangrui07@sina.com
Received: March 30, 2022 Peer-review started: March 30, 2022 First decision: June 16, 2022 Revised: July 14, 2022 Accepted: August 25, 2022 Article in press: August 25, 2022 Published online: October 6, 2022 Processing time: 181 Days and 1.3 Hours
Abstract
BACKGROUND
Renal cell carcinoma (RCC) with Xp11.2 translocation/TFE3 gene fusion is a rare and distinct subtype of RCC that is classified under tumors with translocation of the microphthalmia-associated transcriptional factor.
CASE SUMMARY
We report an adult case of Xp11.2 translocation advanced RCC with metastasis (T3aN1M1), after targeted treatment, alcohol ablation, and transarterial chemoembolization, who eventually underwent successful surgical excision. No recurrence or transfer was seen within one year, and the survival period was more than 3 years. A review of the relevant literature was conducted to improve our understanding of the pathogenesis, epidemiology, clinical manifestations, diagnosis, differential diagnosis, treatment, and other aspects of the disease.
CONCLUSION
Transarterial chemoembolization and ablation did not achieve the desired tumor reduction in this patient, but had a significant effect on reducing intraoperative bleeding and inhibiting tumor activity.
Core Tip: Under the guidance of multimodality imaging, surgical resection, targeted chemotherapy, alcohol ablation, and transarterial chemoembolization were used to treat a case of Xp11.2/TFE3 (T3aN1M1) advanced renal cell carcinoma with good results. No recurrence or metastasis occurred within 1 year, with a partial response over 3 years. By reviewing this case and related literature, we can improve our understanding of the diagnosis, differential diagnosis and treatment of the disease.