Pembrolizumab combined with Axitinib in ASPSCR1-TFE3 gene fusion translocation renal cell carcinoma: a case report and literature review

Background: Translocation renal cell carcinoma (tRCC) is a subtype of nccRCC driven by MiT/TFE gene fusion. The demographic characteristics of tRCC include younger age at diagnosis, later staging at diagnosis, high degree of malignancy, poor prognosis, and female majority. There are currently no standard guidelines for the diagnosis and treatment of this type of kidney cancer. Objective: To investigate the efficacy of immuncheckpoint blockadeinhibitor combined with anti-VEGF receptor tyrosine-kinase inhibitors in ASPSCR1-TFE3 gene fusion translocation renal cell carcinoma(tRCC). Case presentation: The paper describes a case of a 42-year-old Chinese female presented enlargement of multiple lymph nodes. Percutaneous aspiration cytology of the tumor on the left side of neck lymph node was confirmed to be malignant. Combined with pathology, PET-CT and genetic testing, the patient was diagnosed with ASPSCR1-TFE3 gene fusion tRCC with multiple metastases (left kidney, cT1aN1M1, stage IV), involving lymph nodes,liver, and bone. The patient was treated with Pembrolizumab combined with Axitinib. Up to June 2022, the patient's progression-free survival time was was more than 2 years, lesions in left kidney, lymph nodes, liver and bone reached stable status, partial response, complete response and stable status, respectively. The patient can receive treatment for side effects. Conclusions: : The report of this case could provide a helpful strategy for combination therapy of PD-1 antibody and VEGFRs inhibitor in rare ASPSCR1-TFE3 gene fusion tRCC.