3例儿童Xp11.2易位TFE3基因融合相关性肾癌CT表现及文献复习  

Computed tomography features of renal cell carcinoma associated with Xp11.2 translocation/FE3 gene fusions:three cases report and literature review

作　　者：马秋红[1] 金科[1] 向永华[1] 李理 Ma Qiuhong;Jin Ke;Xiang Yonghua;Li Li(Department of Radiology,Hunan Children's Hospital,Changsha 410007,China)

机构地区：[1]湖南省儿童医院放射科,湖南省长沙市410007

出　　处：《临床小儿外科杂志》2020年第10期909-915,共7页Journal of Clinical Pediatric Surgery

基　　金：湖南省卫生健康委员会一般科研项目(编号:B2017112)。

摘　　要：目的分析儿童Xp11.2易位TFE3基因融合相关性肾癌CT表现,以提高该病的诊断水平。方法回顾性分析湖南省儿童医院2011年1月至2019年6月经手术病理确诊的3例Xp11.2易位TFE3基因融合相关性肾癌患儿的影像学资料;检索万方、CNKI、迈特思创、Pubmed数据库截止2019年11月关于儿童Xp11.2易位TFE3基因融合相关性肾癌的相关文献并进行分析。分析Xp11.2易位TFE3基因融合相关性肾癌瘤体的部位、大小、形态、密度(钙化、出血、囊变坏死)、强化方式及转移情况等临床资料。结果通过文献检索,联合本研究收集的3例Xp11.2易位TFE3基因融合相关性肾癌患儿进行综合分析,共纳入19例患儿,其中女童8例,男童11例;15例行CT平扫及增强扫描,仅1例行CT增强扫描;4例行MRI检查;右肾10例,左肾9例,均为单发;4例位于肾髓质内,14例位于肾皮髓质内,1例位于皮质。12例呈类圆形,7例呈不规则形。15例CT平扫发现8例呈稍高密度,7例呈等低密度;病例中有12例出现钙化;10例合并出血;16例出现囊变坏死。4例MRI检查示T1WI及T2WI均呈不均匀信号,1例中度不均匀持续强化,1例明显不均匀持续强化。CT动态增强扫描示病灶强化不均匀,6例轻度强化,4例中度强化,6例明显强化。各期强化程度均低于正常肾皮质,6例皮髓质期及延迟期呈渐进式持续强化;8例皮质期强化高于髓质期,延迟期强化稍低于髓质期,强化程度逐渐减低;2例各期强化无明显变化。10例出现腹膜后及腹主动脉旁淋巴结转移,其中1例肝脏受累,1例颈部淋巴结转移,4例腔静脉受累,1例2个月后子宫转移,1例死亡。结论儿童Xp11.2易位TFE3基因融合相关性肾癌CT表现具有一定的特征性,特别是在儿童中发现肾脏肿瘤,应重点考虑Xp11.2易位TFE3基因融合相关性肾癌的可能。Objective To explore the computed tomography(CT)features of renal cell carcinoma(RCC)associated with Xp11.2 translocation/TFE3 gene fusions for enhancing its diagnostic level in children.Methods from January 2011 to June 2019,retrospective analysis was performed for clinical data of 3 operatively and pathologically confirmed cases of RCC associated with Xp11.2 translocation/TFE3 gene fusions.The databases of Wanfang,CNKI,METSTR and PubMed were searched for the literature reports of pediatric RCC associated with Xp11.2 translocation/TFE3 gene fusions up until November 2019.The location,size,contour,density(calcification,hemorrhage&cystic necrosis),enhancement mode and metastasis of Xp11.2 translocation TFE3 fusion-related RCC were analyzed.Results There were 11 boys and 8 girls.The imaging modalities were plain&enhanced CT(n=15),enhanced CT alone(n=1)and magnetic resonance imaging(MRI,n=4).The involved side was right(n=10)and left(n=9).The solitary lesions were located in medulla(n=4),cortex&medulla(n=14)and cortex(n=1).And the contours were round-like(n=12)and irregular(n=7).Plain CT scans indicated slightly high density(n=8),isolow density(n=7),calcification(n=12),hemorrhage(n=10)and cystic necrosis(n=16).And MRI hinted at nonhomogeneous signal on T1WI/T2WI(n=4),moderate nonhomogeneous continuous enhancement(n=1)and obvious nonhomogeneous continuous enhancement(n=1).Dynamic contrast-enhanced CT scans revealed uneven enhancement of focus.And the enhancements were slight(n=6),moderate(n=4)and significant(n=6).The enhancement degree of each phase was lower than that of normal renal cortex.In 6 cases,there were progressive and continuous enhancements during cortex medulla and delayed phases;In 8 cases,there were higher enhancement during cortex phase than that during medulla phase,slightly lower enhancement during delayed phase than that during medulla phase and enhancement degree decreased gradually;In 2 cases,no significant change occurred during each phase.There were retroperitoneal and paraaortic lymph node meta

关 键 词：肾肿瘤 体层摄影术 X线计算机 易位 遗传 基因融合 儿童 

分 类 号：R737.11[医药卫生—肿瘤]