Xp11.2易位/TFE3基因融合相关性肾癌3例临床病理分析

目的:探讨Xp11.2易位/TFE3基因融合相关性肾癌的临床病理特征。方法:回顾性分析2012~2013年间收治的3例Xp11.2易位/TFE3基因融合相关性肾癌患者的临床病理及免疫组织化学标记资料:女2例,男1例,年龄23~36岁,平均29.3岁。肿块直径4~8cm。均行肾癌根治术,术后行病理及免疫组织化学检查。结果:光镜下见癌组织呈实性片状、乳头状分布,肿瘤细胞较大,边界清楚,胞质有嗜酸性细颗粒状,细胞核呈空泡状,核仁明显。3例免疫组织化学检查TFE3表达均呈阳性。结论:Xp11.2易位/TFE3基因融合相关性肾癌是一种少见肿瘤,诊断主要依据患者年龄、组织学形态和免疫组织化学TFE3阳性表达来确诊。

Pathological analysis of three cases of renal carcinomas associated with Xpll. 2 translocations/TFE3 gene fusions

Objective：To analyze the pathological features of renal carcinoma associated with Xp11.2 transloca- tions/TFE3 gene fusions. Method： The clinical data of three patients diagnosed with renal carcinoma associated with Xpll. 2 translocations/TFE3 gene fusions from 2012 to 2013 were retrospectively analyzed and followed up. These three patients included two females and one male whose mean age was 29.3 （range, 23-36） years. The size of the mass was 4-8 cm microscopically. All patients underwent radical nephrectomy and pathological and immuno- histochemical examinations were followed. Result：Under a light microscope the cancer tissues were found to have mixed papillary, trabecular, nested/alveolar architecture with clear and eosinophilic voluminous cytoplasm. The tumor cells have clear boundaries. The nuclei were vesicular with occasional prominent nucleoli. The results of im- munohistochemical examination showed that the expression of TFE3 of three cases were positive. Conclusion：Renal carcinoma associated with Xpll. 2 translocations/TFE3 gene fusions was rare. The diagnosis should be based on patients＂ age, histopathology and a positive resutt of immunohistochemical staining of TFE3.