Case Report: Clinical complete response of advanced renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene fusion by treated by camrelizumab and axitinib: A rare case report

Abstract

Renal cell carcinoma (RCC) associated with Xp11.2 translocation/TFE3 gene fusions is a rare subtype of renal tumor. This entity predominantly occurs in juveniles, but rarely in adults. Xp11.2 translocation RCC (tRCC) patients with lymph node or organ metastasis are associated with poor prognosis, and the strategy remains controversial. Herein, we presented our experience with the diagnosis and treatment of an adult case of Xp11.2 tRCC. In our clinical practice, a 32-year-old male manifested fever and right flank paroxysmal blunt pain, and computed tomography showed an inhomogeneous mass, 6 cm in diameter, in the right kidney. Then right partial nephrectomy (PN) and renal hilar lymph node dissection by laparoscopic surgery were performed. Pathology revealed that the tumor cells were positive for TFE3 immunohistologically and positive for TFE3 break-apart fluorescence in situ hybridization assay. A splice site mutation c.1544-1G>T of protein tyrosine phosphatase receptor delta (PTPRD) was detected by next-generation sequencing and weak PTPRD expression was confirmed in tumor tissues compared to tumor periphery. This patient was diagnosed with stage III RCC and received immune checkpoint inhibitor (camrelizumab) in combination with tyrosine kinase inhibitor (axitinib) treatment for 1 year. He achieved a clinical complete response with no sign of recurrence or metastasis. PTPRD mutation might be a favorable indicator for Xp11.2 tRCC patients managed by PN and followed by the adjuvant therapy of immune checkpoint inhibitor and tyrosine kinase inhibitor.

A safe and effective treatment combination of neoadjuvant therapy and surgical resection for metastatic TFE3-rearranged renal cell carcinoma:a case report

“…The patient underwent neoadjuvant therapy with VEGFR-TKI axitinib (5 mg orally once daily) as first-line treatment to reduce the size of the tumor lesion and metastasis. High PD-L1 expression was observed in the PD-L1 immunohistochemistry analysis ( Figure 2F ), which is consistent with previous studies that showed the correlation between PD-L1 expression levels in tumor tissues and the efficacy of PD-1 antibody treatment for TFE3 -rearranged RCC ( 10 , 11 ). Therefore, we administered the anti-programmed cell death-1 antibody tislelizumab (200 mg intravenously once every 3 weeks) targeted therapy.…”