Diagnosis and management of TFE3-rearranged renal cell carcinoma: case report and literature review

Abstract Background TFE3-rearranged renal cell carcinoma is a rare malignancy with distinctive morphological and immunological characteristics. Although it can manifest in individuals of any age, its occurrence in adults is exceedingly uncommon, comprising only 1.5% of adult renal cell carcinomas. T...

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Main Authors: Yongxin Zhang, Junxin Shen, Jinfeng Wu, Hongxing Huang, Fengjiao Meng, Runqiang Yuan, Yangbai Lu
Format: Article
Language:English
Published: BMC 2025-08-01
Series:BMC Urology
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Online Access:https://doi.org/10.1186/s12894-025-01908-2
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Summary:Abstract Background TFE3-rearranged renal cell carcinoma is a rare malignancy with distinctive morphological and immunological characteristics. Although it can manifest in individuals of any age, its occurrence in adults is exceedingly uncommon, comprising only 1.5% of adult renal cell carcinomas. The disease typically presents with a benign course in pediatric patients, yet in adults, it often progresses rapidly and aggressively. Case presentation Herein, we present a case of a 35-year-old female diagnosed with TFE3-rearranged renal cell carcinoma, who was initially asymptomatic. Imaging studies revealed a solid renal mass in the left kidney without signs of metastasis. Initially misdiagnosed as a vascular smooth muscle lipoma, the patient underwent laparoscopic partial nephrectomy. Subsequent histopathological and molecular analyses validated the diagnosis of TFE3-rearranged renal cell carcinoma. The patient demonstrated favorable short-term outcomes after early laparoscopic intervention, with no evidence of tumor recurrence or metastasis at both the 4-month and 15-month follow-ups. Conclusions This case serves as a valuable resource for oncologists involved in the diagnosis and management of TFE3-rearranged renal cell carcinoma.
ISSN:1471-2490