Treatment of metastatic TFE3 microphthalmia transcription factor translocation renal cell carcinoma: a case report

作者全名：Zhang, Yunlong; Li, Changchun; Deng, Xiaobin; Urabe, Fumihiko; Burotto, Mauricio; Buti, Sebastiano; Giudice, Giulia Claire; Zhao, Zhenzhen; Yang, Chao; Sun, Jian; Du, Yifei; Wang, Shan

作者地址：[Zhang, Yunlong; Li, Changchun; Deng, Xiaobin; Zhao, Zhenzhen; Yang, Chao; Sun, Jian; Du, Yifei; Wang, Shan] Chongqing Med Univ, Key Lab Child Dev & Disorders, Chongqing Key Lab Pediat, Dept Pediat Surg Oncol,Childrens Hosp,Natl Clin Re, 136 2nd Zhongshan Rd, Chongqing 400010, Peoples R China; [Urabe, Fumihiko] Jikei Univ, Dept Urol, Sch Med, Tokyo, Japan; [Burotto, Mauricio] Bradford Hill Clin Res Ctr, Santiago, Chile; [Buti, Sebastiano; Giudice, Giulia Claire] Univ Parma, Dept Med & Surg, Parma, Italy; [Buti, Sebastiano; Giudice, Giulia Claire] Univ Hosp Parma, Oncol Unit, Parma, Italy

通信作者：Wang, S (通讯作者)，Chongqing Med Univ, Key Lab Child Dev & Disorders, Chongqing Key Lab Pediat, Dept Pediat Surg Oncol,Childrens Hosp,Natl Clin Re, 136 2nd Zhongshan Rd, Chongqing 400010, Peoples R China.

来源：TRANSLATIONAL PEDIATRICS

ESI学科分类：　

WOS号：WOS:001223134600014

JCR分区：Q2

影响因子：1.5

年份：2024

卷号：13

期号：3

开始页：499

结束页：507

文献类型：Article

关键词：Case report; MiTF/TFE translocation renal cell carcinoma (MiTF/TFE translocation RCC); treatment; TFE3

摘要：Background: Microphthalmia-associated transcription factor/transcription factor E (MiTF/TFE) translocation renal cell carcinoma (RCC) is a rare type of non -clear cell RCC (nccRCC), which is more common in females. Currently, there is no standardized treatment for advanced metastatic microphthalmia translocation RCC (MiT-RCC). The main treatment modalities include surgery, chemotherapy, immunotherapy, anti -vascular endothelial growth factor or vascular endothelial growth factor receptor (VEGFR) inhibitors, mammalian target of rapamycin (mTOR) inhibitors, and targeted therapy against the mesenchymal-epithelial transition (MET) factor signaling pathway. Case Description: We present the case of an 8 -year -old male patient with hematuria and paroxysmal urinary pain. Based on tumor genetic testing results and targeted drug matching analysis, the patient underwent tumor biopsy, tumor radical surgery with vascular osteotomy, and cervicothoracic lymph node dissection. The patient was then treated with a combination of immunotherapy [sintilimab, a drug directed against programmed cell death receptor -1 (PD -1)] and VEGFR tyrosine kinase inhibitor (TKI) (from pazopanib to sunitinib). Throughout the 10 cycles of conventional chemotherapy (seven courses of sintilimab since the start of the third chemotherapy treatment), the patient's condition remained stable, with no tumor recurrence at the primary site. However, in the later stages, the patient developed a large amount of ascites, and the family requested discontinuation of treatment, ultimately leading to the patient's death. Conclusions: In this case report, we summarize the therapeutic strategy of a young patient with metastatic transcription factor E3 ( TFE3 ) MiT-RCC. For this disease, early immunotherapy and the use of precisiontargeted drugs may have a favorable impact on the survival prognosis of the patient but may still be of less benefit in children with advanced multiple metastases. Therefore, further research on tumor driver genes, among other treatment components, is urgently needed to improve precision therapy.

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