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,,19():909-915.[doi:10.3969/j.issn.1671-6353.2020.10.009]
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
- CLC:
- R737.11;R730.4
- 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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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