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

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

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review


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 precision-targeted 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.

Original languageEnglish
Pages (from-to)499-507
Number of pages9
JournalTranslational Pediatrics
Issue number3 March
StatePublished - Mar 2024
Externally publishedYes

Bibliographical note

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  • Case report
  • MiTF/TFE translocation renal cell carcinoma (MiTF/TFE translocation RCC)
  • TFE3
  • treatment


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