Zhang Yongxin, Shen Junxin, Wu Jinfeng, Huang Hongxing, Meng Fengjiao, Yuan Runqiang, Lu Yangbai
Department of MR, Zhongshan City People's Hospital, Zhongshan, Guangdong, China.
Department of First Clinical Medical College, Guangdong Medical University, Zhanjiang, Guangdong, China.
BMC Urol. 2025 Aug 20;25(1):207. doi: 10.1186/s12894-025-01908-2.
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.
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.
This case serves as a valuable resource for oncologists involved in the diagnosis and management of TFE3-rearranged renal cell carcinoma.
TFE3 重排性肾细胞癌是一种罕见的恶性肿瘤，具有独特的形态学和免疫学特征。尽管它可在任何年龄的个体中出现，但其在成人中的发生极为罕见，仅占成人肾细胞癌的 1.5%。该疾病在儿科患者中通常表现为良性病程，但在成人中，它往往进展迅速且具有侵袭性。
在此，我们报告一例 35 岁女性被诊断为 TFE3 重排性肾细胞癌，该患者最初无症状。影像学检查显示左肾有一个实性肿块，无转移迹象。该患者最初被误诊为血管平滑肌脂肪瘤，随后接受了腹腔镜部分肾切除术。随后的组织病理学和分子分析证实了 TFE3 重排性肾细胞癌的诊断。早期腹腔镜干预后，患者显示出良好的短期预后，在 4 个月和 15 个月的随访中均无肿瘤复发或转移的迹象。
该病例为参与 TFE3 重排性肾细胞癌诊断和管理的肿瘤学家提供了宝贵的参考资料。
