Xp11.2易位/TFE3基因融合相关性肾癌3例临床病理学分析

Xp11.2 translocation TFE3 gene fusion associated renal cell carcinoma:a clinicopathological analysis of 3 cases

目的观察Xp11.2易位/TFE3基因融合相关性肾癌3例的临床病理学特征。方法对已诊断明确的3例Xp11.2易位/TFE3基因融合相关性肾癌的免疫组化特征、病理学、影像学特征、临床特征进行回顾性分析,评估Xp11.2易位/TFE3基因融合相关性肾癌的病理学特征和预后转归情况。结果3例病人均为男性,平均年龄58岁(42~68岁);肿瘤直径3.2~5.0 cm,平均直径4 cm;肿瘤切开切面为灰黄或灰红色,大体标本呈实性,部分区域出现出血。1例大体标本为囊实性。镜检为腺泡状、巢状、乳头状结构,由嗜酸性或透明细胞构成,边界清晰,间质内含有数量不等的砂砾体,核仁明显,染色质呈囊泡状。免疫组化显示3例病例肿瘤细胞TFE3、vimentin均呈弥漫性阳性,HMB45、Melan-A、CD10、RCC、E-cad均呈不同程度阳性,CD117、CK7均呈阴性,Ki67阳性率平均10%。结论Xp11.2易位/TFE3基因融合相关性肾癌是一种罕见的恶性肿瘤,主要根据免疫组化标记TFE3、组织病理学、年龄确诊,治疗方式为手术治疗,预后尚可。

Objective:To investigate the clinicopathological features of renal cell carcinoma associated with Xp11.2 translocation/TFE3 fusion.Methods:Three cases of renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene fusion were analyzed retrospectively in terms of immunohistochemistry,pathology,imaging and clinical features.The pathological features and prognosis of renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene fusion were evaluated.Results:There were 3 males with an average age of 58 years(42-68 years);The tumor diameter was 3.5-5 cm,with an average of 4cm;The cut surface of the mass was grayish yellow or grayish red,the gross specimen was solid,and bleeding occurred in some areas.One case was cystic and solid.Microscopic examination showed acinar,nest and papillary structure,which was composed of eosinophilic or transparent cells with clear boundary.There were different numbers of gravel bodies in the stroma,obvious nucleoli and vesicular chromatin.Immunohistochemical staining showed that TFE3 and vimentin were diffusely positive in 3 cases,HMB45,Melan-A,CD10,RCC and E-cad were positive in varying degrees,CD117 and CK7 were negative,and the average positive rate of Ki67 was 10%.Conclusion:Renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene fusion is a rare malignant tumor.The diagnosis is mainly based on immunohistochemical markers of TFE3,histopathology and age.The treatment is surgery,and the prognosis is moderately well.