成人Xp11.2易位/TFE3基因融合相关性肾癌三例病理分析并文献复习

Adult Xp11.2 translocation/TFE3 gene fusion-related renal cell carcinoma:Report of 3 cases and literature review

目的探讨Xp11.2易位/TFE3基因融合相关性肾细胞癌的临床特征、病理诊断及预后。方法收集济宁医学院附属医院2013-01-01-2019-05-01确诊为Xp11.2易位/TFE3基因融合相关性肾癌3例临床资料,结合组织病理学、免疫组织化学方法及文献分析进行总结。结果3例患者年龄26~33岁,瘤体最大直径2.5~8.5cm。3例病例均具有纤维血管轴心的乳头状结构以及"假菊形团"结构,肿瘤由具有透明或嗜酸性细胞质的细胞构成,肿瘤细胞具有明显核仁,核仁等级均较低。其中第2例肿瘤局部可见多房囊性生长区域,类似低度恶性潜能多房囊性肾肿瘤,以及高柱状细胞排列成分泌性子宫内膜样结构和砂砾体结构;第3例肿瘤部分呈实性生长模式,高柱状肿瘤细胞呈腺样排列。免疫组织化学染色显示,3例肿瘤组织均表达TFE3、CD10及RCC,不同程度表达Vimentin、p504S、Melan-A,均不表达CK7、CA-IX和CD117。2例获得随访,均无复发及转移。结论Xp11.2 RCC是种少见类型的肾癌,具有独特的的组织学形态及免疫表型,需提高诊断水平以确保正确临床治疗。

OBJECTIVE To investigate the clinical features,pathological diagnosis and prognosis of Xp11.2 translocation/TFE3 gene translocations/TFE3 gene fusions.METHODS The cases of Xp11.2 translocation/TFE3 gene fusion-related renal cell carcinoma were collected from January 1,2013 to May 1,2019.The histopathology,immunohistochemistry and literature analysis were combined.RESULTS Three patients were 26 to 33 years old and the largest diameter of the tumor was 2.5 to 8.5 cm.All of the 3 cases had a papillary structure of fibrovascular axis and a"fake daisyshaped"structure.The tumor consisted of cells with transparent or eosinophilic cytoplasm.The tumor cells had obvious nucleoli and the nucleoli ranks were low.Among them,the second part of the tumor showed a multi-sacral cystic growth area,similar to low-grade malignant potential polycystic renal tumor,and high columnar cells arranged into secretory endometrial-like structure and sand body structure.The third part of the tumor was in solid growth mode,high columnar tumor cells are arranged in adenoids.Immunohistochemical staining:3 cases of tumor tissues expressed TFE3,Melan-A,CD10 and RCC,and Vimentin and P504 Swere not expressed in different degrees,and CK7,CA-IX and CD117 were not expressed.2 cases were followed up,2 cases had no recurrence and metastasis.CONCLUSION Xp11.2 RCC is a rare type of renal cell carcinoma with unique histological morphology and immunophenotype.Its prognosis is worse than that of clear cell renal cell carcinoma.It is necessary to improve the diagnostic level to ensure correct clinical treatment.