Ma Qiuhong,Jin Ke,Xiang Yonghua,et al.Computed tomography features of renal cell carcinoma associated with Xp11.2 translocation/FE3 gene fusions: three cases report and literature review[J].Journal of Clinical Pediatric Surgery,2020,19(10):909-915.[doi:10.3969/j.issn.1671-6353.2020.10.009]
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
- Title:
- Computed tomography features of renal cell carcinoma associated with Xp11.2 translocation/FE3 gene fusions: three cases report and literature review
- Keywords:
- Kidney Neoplasms; Tomography; X-Ray Computed; Translocation; Genetic; Gene Fusion; Child
- 分类号:
- R737.11;R730.4
- 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。
- Abstract:
- 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 metastasis (n=10),hepatic involvement (n=1),neck lymph node metastasis (n=1),vena cava involvement (n=4),uterus metastasis at 2 months (n=1) and death (n=1).Conclusion The CT features of pediatric RCC associated with Xp11.2 translocation/TFE3 gene fusions have some unique characteristics.Especially in children,the possibility of RCC associated with Xp11.2 translocation/TFE3 gene fusions should be considered.
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备注/Memo
收稿日期:2019-09-24。
基金项目:湖南省卫生健康委员会一般科研项目（编号：B2017112）
通讯作者:金科,Email:jinke001@sina.com