Xp11.2易位/TFE3基因融合相关性肾癌CT表现

CT imaging findings of renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene fusions

目的：探讨Xp11．2易位/T FE3基因融合相关性肾癌的临床、病理及影像学特点，以有助于术前诊断。方法回顾分析5例Xp11．2易位/T FE3基因融合相关性肾癌的临床、病理及影像学特点并复习相关文献。结果患者平均年龄35岁（10～61岁），4例女性。5例Xp11．2易位/TFE3基因融合相关性肾癌增强CT扫描轻度强化，5例均有坏死、出血，4例可见钙化灶，2例肾上腺转移，4可见多发淋巴结转移。肿瘤细胞呈巢状或乳头状结构，可见嗜酸性颗粒细胞及沙砾体形成，T FE3均为阳性。结论 Xp11．2易位/T FE3基因融合相关性肾癌临床罕见，儿童与年轻人发病率高，如果CT平扫肿瘤可见出血、坏死，增强CT轻度强化，伴多发淋巴结或远处器官转移时，有助于本病的诊断。

Objective To investigate the clinical ,pathological and imaging features of the renal cell carcinoma associated with Xp11 .2 translocation /TFE3 gene fusions ,so as to help to diagnosis before surgery .Methods The clinical ,patho-logical and imaging features of five cases were retrospectively analyzed ,and the related literatures were reviewed .Results The mean age was 35 years（range ,10~61 years） .Four cases were women .ALL of the five cases were hypovascular on contrast-enhanced CT and comprised of solid lesion with focal necrosis and hemorrhage ,four cases were calcified ,two ca-ses were adrenal metastasis ,four cases were lymph node metastasis .Tumor cells had the nest structure and papillary structure ,eosinophilic granula cells and psammoma bodies can be seen .All of TFE3 was positive .Conclusion Renal car-cinoma associated with Xp11 .2 translocation /TFE3 gene fusions is rare ,the possibility of this tumor should be consid-ered a renal mass seen in a young patient ,which demonstrates hemorrhage or necrosis on unenhanced CT ,slight enbance-ment on contrast-enhanced CT ,lymph node and distant organ metastasis .