Gene fusions involving two of the MiT subfamily factors, such as TFE3, TFEB, TFC and MiTF, have been identified in renal cell carcinoma (RCC). Xp11.2 translocation RCC is a rare pediatric neoplasm that harbors gene fu...Gene fusions involving two of the MiT subfamily factors, such as TFE3, TFEB, TFC and MiTF, have been identified in renal cell carcinoma (RCC). Xp11.2 translocation RCC is a rare pediatric neoplasm that harbors gene fusions involving TFE3, which plays an important role in cell proliferation and survival. We herein present a case of RCC associated with Xp11.2 translocation/TFE3 gene fusion in a 14-year-old Japanese boy presenting gross hematuria and body weight loss. The tumor was characterized by histopathology, cytology and TFE3-immunohistochemistry/immunocytochemistry. Knowledge of distinctive morphological and immunostaining features of this tumor can help to accurately diagnose this rare subset of translocation associated RCC in routine pathological diagnostic procedures.展开更多
患者女性,59岁,体检发现右侧肾占位1周入院。患者一般情况可,饮食睡眠正常,大小便正常,无尿频、尿急、尿痛和血尿,亦无其他明显不适主诉,双侧腰部无隆起,双侧肾区无叩痛。CT示:双侧肾脏形态、轮廓正常,右肾下极见类圆形稍高密度影,内见...患者女性,59岁,体检发现右侧肾占位1周入院。患者一般情况可,饮食睡眠正常,大小便正常,无尿频、尿急、尿痛和血尿,亦无其他明显不适主诉,双侧腰部无隆起,双侧肾区无叩痛。CT示:双侧肾脏形态、轮廓正常,右肾下极见类圆形稍高密度影,内见点状高密度影,大小4.2 cm×3.5 cm×3 cm, 增强后呈中度较均匀强化,考虑乏脂肪型血管平滑肌脂肪瘤可能性大,尚不排除其他。展开更多
文摘Gene fusions involving two of the MiT subfamily factors, such as TFE3, TFEB, TFC and MiTF, have been identified in renal cell carcinoma (RCC). Xp11.2 translocation RCC is a rare pediatric neoplasm that harbors gene fusions involving TFE3, which plays an important role in cell proliferation and survival. We herein present a case of RCC associated with Xp11.2 translocation/TFE3 gene fusion in a 14-year-old Japanese boy presenting gross hematuria and body weight loss. The tumor was characterized by histopathology, cytology and TFE3-immunohistochemistry/immunocytochemistry. Knowledge of distinctive morphological and immunostaining features of this tumor can help to accurately diagnose this rare subset of translocation associated RCC in routine pathological diagnostic procedures.
文摘患者女性,59岁,体检发现右侧肾占位1周入院。患者一般情况可,饮食睡眠正常,大小便正常,无尿频、尿急、尿痛和血尿,亦无其他明显不适主诉,双侧腰部无隆起,双侧肾区无叩痛。CT示:双侧肾脏形态、轮廓正常,右肾下极见类圆形稍高密度影,内见点状高密度影,大小4.2 cm×3.5 cm×3 cm, 增强后呈中度较均匀强化,考虑乏脂肪型血管平滑肌脂肪瘤可能性大,尚不排除其他。
