Renal cell carcinoma associated with Xp11.2 translocations/TFE3 gene fusions: a study of 2 cases and review of literature
Yang Zhaowei
Kong Xue
Wei Wenhuan
Sun Dan
Yin Lei
Li Zeliang
Kong Chuize
Abstract：Objective: To investigate the clinicopathologic features,treatment and prognosis of renal cell carcinoma associated with Xp11.2 translocations/TFE3 gene fusions.Methods: Two patients with renal cell carcinoma associated with Xp11.2 translocations/TFE3 gene fusions were diagnosed and treated in our institution,and the clinical data were retrospectively analyzed.Results: The renal cell carcinoma of 2 cases reported was located in the left kidney.Case one was diagnosed with distant metastasis and palliative surgery was performed.Case two was given the radical resection of the left kidney.Immunohistochemical examination showed that both patients were positive for TFE3.Two cases were postoperatively followed up for 12 months.The case one had stable clinical condition,and another had no recurrence and distant metastasis.Conclusions: Xp11.2 translocation-associated renal cell carcinoma (Xp11.2 RCC) is characterized by the gene fusions between the transcription factor E3 (TFE3),which is located on the chromosome Xp11.2 and a variety of fusion partners.Xp11.2 RCC is a newly defined rare entity with more lymph node metastasis and higher tumor stage.The diagnosis mainly depends on histopathological characteristics,TFE3-positive immune markers and fluorescence in situ hybridization technique.Patients with metastatic renal cell carcinoma associated with Xp11.2 translocations/TFE3 gene fusions could benefit from the target therapy.Surgery is the preferred and radical cure for this type of kidney neoplasms.
Keywords：Xp11.2 translocationTFE3 gene fusionkidney neoplasmstreatment
Publication Date：2016-01-01
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：6( 306-311 )