Remarkable Response to Immunotherapy and VEGFR Inhibitor in Xp11 Translocation Renal Cell Carcinoma in a 17-Year-Old Adolescent.
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BACKGROUND: Xp11 translocation renal cell carcinoma (tRCC) is a rare and aggressive renal cancer characterized by gene fusion involving TFE3. It accounts for < 5% of renal cancers and shows variable responses to conventional antivascular endothelial growth factor therapies. Optimal treatment strategies for metastatic cases have not been determined. OBJECTIVE: To report the clinical presentation, molecular diagnosis, and therapeutic response of an adolescent patient with metastatic Xp11 tRCC treated with pembrolizumab and lenvatinib. METHODS: A 17-year-old female presented with a large left renal mass, gross hematuria, extensive metastases to the supraclavicular, mediastinal, and intra-abdominal lymph nodes, and pleural nodules. Immunohistochemistry confirmed transcription factor E3 (TFE3) positivity, and next-generation sequencing identified an ASPSCR1-TFE3 fusion. Following renal embolization for local control, the patient received systemic therapy (pembrolizumab at 200 mg/dose given every 3 weeks and lenvatinib at 10 mg-20 mg/day). RESULTS: The patient showed rapid clinical improvement, with her Eastern Cooperative Oncology Group Performance Status Scale grade improving from 3 to 1 after the initial cycles. CT imaging after the sixth cycle demonstrated a marked reduction in the size of the primary tumor and in the sizes and numbers of metastatic lesions, involved lymph nodes, and pleural nodules. The patient recovered to normal well-being. CONCLUSION: Pembrolizumab combined with lenvatinib showed significant antitumor activity in an adolescent with advanced ASPSCR1-TFE3 fusion Xp11 tRCC. These findings support the utility of molecular profiling of renal tumors in young adults and suggest that this combination is an effective treatment option for this subtype of renal cancer.