Pathological analysis of three cases of renal carcinomas associated with Xp11.2 translocations/TFE3 gene fusions
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摘要: 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4~8 cm。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。Abstract: Objective: To analyze the pathological features of renal carcinoma associated with Xp11.2 translocations/TFE3 gene fusions.Method: The clinical data of three patients diagnosed with renal carcinoma associated with Xp11.2 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 immunohistochemical 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 immunohistochemical examination showed that the expression of TFE3 of three cases were positive.Conclusion: Renal carcinoma associated with Xp11.2 translocations/TFE3 gene fusions was rare. The diagnosis should be based on patients' age, histopathology and a positive result of immunohistochemical staining of TFE3.
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Key words:
- renal carcinoma /
- gene fusion /
- Xp11.2 /
- TFE3 gene
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