Xp11.2易位/TFE3基因融合相关性肾癌的影像诊断与鉴别诊断  

CT and MRI imaging in diagnosing renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene fusion

作　　者：张旭婷[1] 任基伟[1] 靳宏星[1] 王艳艳[1] ZHANG Xuting;REN Jiwei;JING Hongxing;WANG Yanyan(Department of MR/CT,Shanxi TumoRHospital,Taiyuan 030013,P.R.China)

机构地区：[1]山西省肿瘤医院MR/CT室

出　　处：《医学影像学杂志》2019年第6期997-1001,共5页Journal of Medical Imaging

摘　　要：目的探讨Xp11.2易位/TFE3基因融合相关性肾癌的影像诊断与鉴别诊断,以利于术前诊断。方法回顾性分析经手术病理证实的15例Xp11.2/TFE3基因融合相关性肾癌患者,探讨其临床表现、好发年龄、CT及MRI特点并与15例肾透明细胞癌、15例乳头状肾细胞癌CT强化特点对照分析。结果病灶最大径线6.54cm(5.03~10.9cm),10例出血,8例钙化(点状、结节状、4例蛋壳样特征性钙化),8例伴肾周侵犯,2例伴淋巴结转移,1例伴腹水,平扫时12例呈稍高密度,2例呈等密度,1例呈稍低密度;增强扫描Xp11.2易位肾癌皮质期CT值明显低于肾透明细胞癌,但Xp11.2易位肾癌与乳头状肾细胞癌各期CT值未见显著差异。3例Xp11.2/TFE3基因融合相关性肾癌T1WI呈等高信号,T2WI呈等低信号,增强呈轻-中度强化。结论Xp11.2/TFE3基因融合相关性肾癌CT及MR有一定的特征性表现,定量测定CT值,结合好发于儿童及年轻人、伴出血、钙化、多发淋巴结及远处器官转移,可有助于术前对Xp11.2/TFE3基因融合相关性肾癌作出诊断。Objective To investigate image diagnosis and differential diagnosis of renal cell carcinoma associated with Xp11.2 Translocation/TFE3 gene fusion, which is beneficial to make a preoperative diagnosis. Methods This study retrospectively analyzed 15 patients with Xp11.2 Translocation RCC confirmed by pathology in shanxi province tumoRhospital, in ordeRto investigate its clinical manifestations, age, CT and MRI features, compared with CT enhancement characteristics of 15 cases with renal cleaRcell carcinoma and 15 cases with papillary renal cell carcinoma. Results The mean age of the 15 patients was 35 years (ranged from 19 to 57 years), including fouRwomen, the largest diameteRline was 6.54 cm (ranged from 5.03 to 10.9 cm). CT revealed hemorrhage, calcification (dotted, nodular, 4 cases of eggshell sample characteristic calcification), renal around invasion, lymph node metastasis, ascites in 10 cases, 8 cases, 8 cases, 2 cases, 1 case, respectively. CT plain scan revealed slight hyper-density in 12 cases, middle-density in 2 cases, and slight low-density in 1 case. The cortical CT values of Xp11.2 translocation RCC were significantly loweRthan those of renal cleaRcell carcinoma, but there was no significant difference between the CT values of Xp11.2 Translocation RCC and papillary renal cell carcinoma at each stage. T 1WI revealed iso- oRhyper-intensity, T 2WI revealed iso-oRhypo-intensity in 3 cases. On DCE-MRimages, mild oR moderate rim enhancement of the tumoRwere observed in 3 cases. Conclusion Xp11.2 translocation RCC has certain CT and MRI characteristics. Combined with quantitative determination of CT values, a child oRyoung adult patient, hemorrhage, calcification, multiple lymph node and distant organ metastases, contribute to make a preoperative diagnosis with Xp11.2 Translocation RCC.

关 键 词：Xp11.2易位 TFE3融合基因 肾细胞癌 影像诊断 

分 类 号：R737.11[医药卫生—肿瘤] R814[医药卫生—临床医学]