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目的探讨Xp11.2易位/TFE3基因融合相关性肾癌的影像学表现及其诊断价值。方法对22例经病理证实的Xp11.2易位/TFE3基因融合相关性肾癌的临床、病理及影像学资料进行回顾性分析。20例行CT平扫和动态增强扫描,4例行MRI平扫和动态增强扫描,9例行超声检查。结果患者年龄9个月至58岁,平均(34±17)岁。22例共23灶,肿瘤主要累及肾髓质;19灶呈实质性,4灶呈囊实性。CT:平扫呈等或稍高密度,密度多不均匀,内见片状坏死,13灶见点状、斑片状、不规则形钙化,3灶内见点片状出血。增强扫描呈中度到明显不均匀渐进性强化。MRI:T1WI示肿瘤呈不均匀低信号,1灶有出血;T2WI上呈混杂低信号3灶,高信号1灶,囊变及坏死区呈明显长T1长T2信号。增强扫描3灶呈中度不均匀渐进性强化,1灶呈快进快出。超声:8灶呈实性,1灶呈囊实性,等或稍高回声,回声不均匀,内见液化坏死,4灶见钙化,7灶CDFI见点线状血流信号。结论 Xp11.2易位/TFE3基因融合相关性肾癌的影像学表现具有一定的特征性,尤其是发生在儿童或年轻成人的肾脏中等血供肿瘤伴有囊变、坏死、出血及钙化等,有助于提高对Xp11.2易位/TFE3基因融合相关性肾癌的影像诊断准确性。
Objective To investigate the imaging findings and the diagnostic value of Xp11.2 translocation / TFE3 fusion-related renal cell carcinoma. Methods The clinical, pathological and imaging data of 22 cases of Xp11.2 translocation / TFE3 gene fusion confirmed by pathology were retrospectively analyzed. Twenty patients underwent CT scan and dynamic contrast-enhanced scan, 4 underwent MRI scan and dynamic contrast-enhanced scan, and 9 underwent ultrasonography. Results Patients ranged in age from 9 months to 58 years (mean, 34 ± 17 years). 22 cases of a total of 23 stoves, the tumor mainly involving the medulla; 19 stove was substantial, 4 stove was cystic solid. CT: plain or slightly higher density was observed, the density of non-uniform, see intramedullary necrosis, 13 lesions see punctate, patchy, irregular-shaped calcification, see 3 intrahepatic platelet bleeding. Enhanced scan was moderate to significantly uneven progressive enhancement. MRI: T1WI showed uneven tumor signal was low, 1 hemorrhage; T2WI was mixed low signal 3 lesions, high signal 1 focus, cystic and necrotic area was significantly long T1 long T2 signal. Enhanced scanning 3 lesions showed moderate uneven progressive enhancement, 1 fasting was fast forward. Ultrasound: 8 stove was solid, 1 stove was cystic, and so on or slightly higher echo, echo uneven, see the liquefied necrosis, see 4 calcification calcification, 7 CDFI see linear blood flow signal. Conclusion The imaging findings of Xp11.2 translocation / TFE3 gene fusion-related renal carcinoma have certain characteristics, especially in the kidney or kidney of children or young adults with cystic lesions, necrosis, hemorrhage and calcification, Help to improve the diagnostic accuracy of Xp11.2 translocation / TFE3 gene fusion-related renal cell carcinoma imaging diagnosis.