To investigate the clinicopathological characteristics, treatment and prognosis of renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene fusions.

Two patients with renal cell carcinoma associated with Xp11.2 translocations/TFE3 gene fusions were diagnosed and treated in our institution. The clinical data was retrospectively analyzed, and the relevant literature was reviewed.

Two patients were found to have renal occupying. The tumor of case 1 was located in the left kidney, with a diameter of about 11cm. The tumor of case 2 was located in the right kidney, with a diameter of about 6 cm. Both patients underwent radical nephrectomy. Immunohistochemical examination showed that both patients were positive for TFE3. Case 1 patient began to take targeted drug after lung metastasis was found. After 18 months of follow-up, bone metastasis had occurred. Case 2 patient did not receive further treatment, there was no recurrence or metastasis after 24 months of follow-up.

Renal cell carcinoma associated with Xp11.2 translocations/TFE3 gene fusion is characterized by the gene fusions between the TFE3, which is located on the chromosome Xp11.2 and a variety of fusion partners. It is a rare renal cancer, which usually has no specific clinical manifestations. The diagnosis mainly depends on imaging, histopathology, and immunohistochemical characteristics. In adults, the disease has a high degree of malignancy. Surgery is the preferred and radical cure for this type of kidney neoplasms, and molecular targeted therapy has a certain effect.