Xp11.2易位/TFE3基因融合相关性肾癌的影像学表现及病理对照分析  

Imaging and pathological characteristics of renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene fusion

作　　者：马义[1] 黎琪[2] 李丹燕[1] Ma Yi;Li Qi;Li Danyan(Department of Radiology,Nanjing Drum Tower Hospital,The Affiliated hospital of Nanjing University Medical School,Nanjing 210008,China;Department of Pathology,Nanjing Drum Tower Hospital,The Affiliated hospital of Nanjing University Medical School,Nanjing 210008,China)

机构地区：[1]南京大学医学院附属鼓楼医院影像科,江苏南京210008 [2]南京大学医学院附属鼓楼医院病理科,江苏南京210008

出　　处：《医学影像学杂志》2023年第2期266-269,共4页Journal of Medical Imaging

基　　金：江苏省南京市卫生科技发展专项资金项目(编号:ZKX22027)。

摘　　要：目的 探讨Xp11.2易位/TFE3基因融合相关性肾癌(简称Xp11.2易位性肾癌)的影像学表现及病理学特征。方法 选取经病理证实为Xp11.2易位性肾癌的31例患者临床资料,分析影像学特征和病理学特点。结果 本组患者临床主要表现为腰痛,血尿及腹部包块。瘤体最大径1.1~12.2 cm,平均5.6 cm。影像学表现瘤体多呈圆形或类圆形,包膜完整,以实性成分为主的瘤体皮质期呈轻-中度强化,髓质期及延迟期呈渐进性强化。以囊变或坏死为主的瘤体实性成分呈中-重度强化,强化结节多位于囊性肿块的边缘,3例诊断时已发生转移。病理显示肿瘤切面为黄褐色或灰白色,镜下癌细胞排列呈乳头状、实性巢状或腺泡状结构,部分可见丰富的间质血管。免疫组化结果显示肿瘤细胞均阳性强表达TFE-3、CD10及PAX-8,阴性表达CD117,CK7及CAIX。荧光原位杂交所有患者均检测到TFE3基因分离。结论 Xp11.2易位性肾癌是一种罕见的肾细胞癌亚型,其影像学表现具有一定的特征性,最终确诊主要依靠组织病理学、免疫组化表型或TFE3荧光原位杂交检测。Objective To analyze the imaging and clinicopathological features of Xp11.2 translocation/TFE3 gene fusion related renal cell carcinoma(Xp11.2 translocation renal cell carcinoma for short). Methods The clinical, imaging and pathological data of 31 patients with pathologically proved Xp11.2 translocation renal cell carcinoma were collected retrospectively. Results There were 15 females and 16 males, ranging in age from 21 to 71 years, with an average age of 40.9 years. The main clinical symptoms were lumbago, hematuria and abdominal mass. The maximum diameter of tumor ranged from 1.1 to 12.2 cm, with an average of 5.6 cm. In imaging, the tumors were mostly round or quasi round, with intact capsule. The tumors with solid components showed mild to moderate enhancement in the cortical phase, and progressive enhancement in the medullary phase and excretory phase. The solid components of the tumor body mainly with cystic change or necrosis showed moderate to severe enhancement, and the enhancement nodules were mostly located at the edge of the cystic mass. Three cases had metastasized at the time of diagnosis. In pathology, the cut surface of the tumor was yellowish brown or grayish white. Under the microscope, the cancer cells were arranged in papillary, solid nest or acinar structures, and some of them were rich in interstitial blood vessels. Immunohistochemical results showed that tumor cells strongly expressed TFE-3, CD10 and PAX-8, and negatively expressed CD117, CK7 and CAIX. TFE3 gene isolation was detected in all cases by fluorescence in situ hybridization(FISH). Conclusion Xp11.2 translocation renal cell carcinoma is a rare subtype of renal cell carcinoma. Its imaging manifestations have certain characteristics. The final diagnosis depends on histopathology, immunohistochemical phenotype and FISH assay.

关 键 词：肾癌 Xp11.2易位 免疫组织化学 磁共振成像 体层摄影术 X线计算机 

分 类 号：R737.11[医药卫生—肿瘤] R445[医药卫生—临床医学]