Xp11.2易位/TFE3基因融合相关性肾癌的影像学表现

Imaging features 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影像特征表现。方法收集新疆维吾尔自治区人民医院2016年3月至2021年11月经病理学检查证实的15例Xp11.2易位/TFE3基因融合相关性肾癌患者的临床资料,分析肿瘤的CT、MRI资料,评估各项影像学特征。结果所有病灶均累及肾皮质和髓质,其中2例累及肾盂致肾积水;6例合并钙化,其中4例为环形或弧形钙化,2例为结节状或斑点状钙化;10例病灶内见坏死、囊变;6例见假包膜,其中2例包膜不完整;4例伴肾门及腹膜后淋巴结转移。4例T_(1)加权成像呈等或、稍低信号,1例呈高信号;3例T_(2)加权成像信号不均匀,呈等、稍高信号;弥散加权成像呈均匀或不均匀高信号;表观扩散系数图呈明显低信号。15例患者增强扫描后,6例皮质期明显强化,髓质期持续强化,延迟期明显廓清;9例皮质期、髓质期轻至中度强化,延迟期轻度廓清。结论Xp11.2易位/TFE3基因融合相关性肾癌具有一定的CT及MRI特征,有助于提高该病的诊断率。

Objective To explore the imaging features of renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene fusions.Methods Clinical data of 15 renal cell carcinoma patients associated with XP11.2 translocation/TFE3 gene fusion confirmed by pathological examination in the People’s Hospital of Xinjiang Uygur Autonomous Region from March 2016 to November 2021 were collected.CT and MRI data of the tumor were analyzed and the imaging features were evaluated.Results All lesions involved the renal cortex and medulla,and two cases of hydronephrosis were caused by involvement of the renal pelvis;six cases were complicated with calcification,including four cases of annular or arc-shaped calcification and two cases of nodular or dotted calcification;necrosis and cystic change were observed in ten cases;pseudocapsule was seen in six cases,including incomplete capsule in two cases;lymph nodes metastasis were found in renal hilum and retroperitoneum in four cases.T_(1)weighted imaging showed equal or slightly low signal in four cases and high signal in one case;T_(2)weighted imaging signals of three cases were uneven,showing equal or slightly high signals;diffusion-weighted imaging presents uniform or non-uniform high signal;and the apparent diffusion coefficient diagram showed a significantly low signal.After enhanced scanning of the fifteen patients,six cases had significant enhancement in the cortical phase,sustained enhancement in the medulla phase and significant clearance in the delayed phase;nine cases had mild to moderate enhancement in the cortical and medulla phases,and slight clearance in the delayed phase.Conclusion Renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene fusions has certain CT and MRI characteristics,which is helpful to improve the diagnosis rate of this disease.