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Treatment of metastatic TFE3 microphthalmia transcription factor translocation renal cell carcinoma: a case report
Yunlong Zhang1, Changchun Li1, Xiaobin Deng1
1Department of Pediatric Surgical Oncology, Children's Hospital of Chongqing Medical University, The National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Pediatrics, Chongqing, China.
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.
Insights
Microphthalmia translocation renal cell carcinoma (MiT-RCC) is rare and lacks standard treatment. A young patient received immunotherapy and targeted therapy, showing initial stability but ultimately succumbing to advanced disease, highlighting the need for better pediatric precision therapies.
Area of Science:
- Pediatric Oncology
- Renal Cell Carcinoma Research
- Precision Medicine in Cancer
Background:
- Microphthalmia-associated transcription factor/transcription factor E (MiTF/TFE) translocation renal cell carcinoma (RCC) is a rare non-clear cell subtype, more prevalent in females.
- Current treatment for advanced metastatic MiT-RCC lacks standardization, with options including surgery, chemotherapy, immunotherapy, and targeted therapies (VEGFR, mTOR, MET).
Observation:
- An 8-year-old male presented with hematuria and urinary pain, diagnosed with MiT-RCC.
- The patient underwent biopsy, radical surgery, and lymph node dissection.
- Treatment involved a combination of programmed cell death receptor-1 (PD-1) inhibitor (sintilimab) and vascular endothelial growth factor receptor (VEGFR) tyrosine kinase inhibitors (TKIs).
Findings:
- The patient remained stable with no recurrence after 10 cycles of chemotherapy and seven courses of sintilimab.
- Later stages showed significant ascites development, leading to treatment discontinuation and patient death.
- The case highlights the challenges in managing advanced pediatric MiT-RCC despite multimodal therapy.
Implications:
- Early immunotherapy and precision-targeted drugs may improve survival in MiT-RCC.
- However, these treatments may offer limited benefit for children with advanced, multiple metastases.
- Further research into tumor driver genes is crucial for advancing precision therapy in pediatric MiT-RCC.
