关键词: 肾肿瘤；Xp11.2 易位；TFE3基因；融合蛋白

Abstract:

Objective   To summarize the clinical features of renal cell carcinoma associated with Xp11.2 translocation, and to explore the approach of its diagnosis and treatment. Methods   The clinical and follow-up data of three cases of renal cell carcinoma associated with Xp11.2 translocations were collected in the department of urology, Qilu Hospital during 2011 and 2012.The surgical specimens were analyzed and the relevant literature were reviewed. Results   Two of the three cases were found after painless gross hematuria and the other was found by physical examination. The average size of all the three renal tumors was 4cm×5cm, calcification spots were found in CT scan, and the tumors were strengthened unevenly by contrast mediums. The genetic feature of all three cases was confirmed by immuneohistochemistry and RT-PCR, which belonged to renal cell carcinoma associated with Xp11.2 translocation. Conclusion   The effective treatment of renal cell carcinoma associated with Xp11.2 translocation is still in the study.

Key words: Renal neoplasms； Xp11.2 translocation； Gene of TFE3； Fusion protein