Xp11.2易位/TFE3基因融合相关性肾癌CT表现及病理对照分析

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

目的:探讨Xp11.2易位/TFE3基因融合相关性肾癌的CT影像学特征及与病理相关性。方法:搜集经病理确诊的、有完整CT影像资料的27例Xp11.2易位/TFE3基因融合相关性肾癌患者,总结分析其临床、CT表现及与病理的相关性。结果:27例患者中男14例,女13例,年龄16~88岁,平均49.7岁,病灶最大径2.0~15.2cm,平均5.59cm。肿瘤形态呈类圆形15例,形态不规则12例。病灶呈实性11例,呈囊实性16例,8例可见钙化灶。11例实性病灶CT平扫密度较均匀,增强后多呈轻度或轻中度强化;16例囊实性病灶CT增强后实性部分明显强化,分别呈结节状(岛屿状)、分隔样强化或边缘不均匀强化。3例邻近脏器受侵,3例出现淋巴结转移,4例可见血管侵犯。结论:Xp11.2易位/TFE3基因融合相关性肾癌通常瘤体体积较大,钙化及病灶内出血、坏死、囊变较多见,CT增强扫描病灶实性成分强化方式多样,与其肿瘤细胞成分、排列方式及血供有关。

Objective：To investigate the CT imaging feature and pathologic correlation of the renal cell carcinoma associated with Xpll. 2 translocation/TFE3 gene fusions. Methods：Complete CT imaging data of 27 patients with renal cell carcinoma associated with Xpl1. 2 translocation/TFE3 gene fusions were collected. The clinical, pathological and CT imaging {eatures were analyzed,and the related literatures were reviewed. Results：Fourteen cases were men,thirteen cases were women. The average age was 49.7 years （age range 16- 88 years）. Mean value of maximum diameter of the tumor was 5.59cm （ranging from 2.0 to 15.2cm）. 15 tumors were oval,12 tumors were irregular;ll tumors were solid,16 tumors were cystic-solid. CT plain scan showed calcification in 8 lesions. The density in 11 lesions was uniform, they showed mostly mild or mild-to-moderate enhancement after contrast injection. The solid component of 16 cystic-solid lesions showed intensive enhancement after contrast injection,these were nodular,septate or heterogeneous at the border. There was invasion of adjacent viscera in 3 cases,lymph node metastasis in 3 cases and vascular invasion in 4 cases. Conclusion：The renal cell carcinoma associated with Xpll. 2 translocation/TFE3 gene fusions are usually large,calcification,hemorrhage, necrosis and cystic change are common,solid composition of the lesions shows a variety of enhancement after contrast administration, and these are related to the tumor cell composition, arrangement and blood supply of the tumor.