15例Xp11.2易位/TFE3基因融合相关性肾癌的临床病理特点分析  

Renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene fusion:clinicopathological analysis of 15 cases

作　　者：沈棋[1] 胡帅 李峻[1] 王静华[1] 刘漓波[1] 何群[1] Shen Qi;Hu Shuai;Li Jun;Wang Jinghua;Liu Libo;He Qun(Department of Urology,Peking University First Hospital,Institute of Urology,Peking University,National Urological Cancer Center,Beijing 100034,China)

机构地区：[1]北京大学第一医院泌尿外科,北京大学泌尿外科研究所,国家泌尿、男性生殖系肿瘤研究中心,100034

出　　处：《中华临床医师杂志（电子版）》2020年第2期105-109,共5页Chinese Journal of Clinicians(Electronic Edition)

摘　　要：目的探讨Xp11.2易位/TFE3基因融合相关性肾癌的临床病理学特征、诊断要点及鉴别诊断。方法回顾性分析15例Xp11.2易位/TFE3基因融合相关性肾癌患者的临床特征、组织学特点、免疫组化及荧光原位杂交,并结合相关文献复习讨论。结果15例患者中,男性6例,女性9例,平均(31.3±9.3)岁。12例为体检偶然发现,临床主要症状表现为血尿和腰腹部疼痛。肿瘤直径1.5~15 cm,平均5.4 cm,3例诊断时已发生转移。10例标本大体呈实性,切面灰白多见,其次为杂色、灰褐,5例切面伴囊性变,5例可见出血及坏死区域。镜下观察可见肿瘤由嗜酸性细胞或透明细胞构成的乳头状、巢状及腺泡状结构,肿瘤细胞界限清楚,核仁较明显,间质主要为纤细的纤维血管间隔,4例可以见到砂砾体。免疫组织化学结果显示肿瘤细胞均弥漫表达TFE3、PAX-8及CD10,不同程度表达AE1/AE3、Vimentin、HMB45及AMACR/P504S,CAIX、CK7、CD117均阴性表达。所有病例TFE3荧光原位杂交检测存在TFE3信号分离。结论Xp11.2易位/TFE3基因融合相关性肾癌是一种罕见的肾细胞癌类型,女性高发于男性,其诊断主要依靠组织病理学、免疫组织化学标记TFE3荧光原位杂交来确诊。Objective To investigate the clinicopathological features,diagnosis,and differential diagnosis of Xp11.2 translocation/TFE3 fusion-related renal cell carcinoma.Methods A total of 15 cases of Xp11.2 translocation/TFE3 fusion-related renal cell carcinoma were analyzed with regard to clinical data,histology,immunohistochemistry,and fluorescence in situ hybridization(FISH)findings.Results Six patients were male and the other nine were female.Their mean age was(31.3±9.3)years.The main clinical manifestations were hematuria and waist pain.Mean tumor diameter was 5.4 cm(range,1.5-15 cm).Ten cases of the gross specimens were solid and had a grey,yellow,or tan cut surface.Five cases of the gross specimens were cystic-solid.Microscopic examination showed that the distinctive histological pattern was papillary,nested,and acini-like structure.The tumor cells had a clear boundary,eosinophilic or clear cytoplasm,and prominent nucleoli.And in 4 cases,psammoma bodies were observed.Immunohistochemistry results showed that TFE3,PAX-8,and CD10 were diffusely expressed in all cases.The expression of AE1/AE3,vimentin,HMB45,and AMACR/P504 S varied among cases.The expression of CAIX,CK7,and CD117 was negative in all cases.All cases showed positive results in the FISH assay.Conclusion Xp11.2 translocation/TFE3 gene fusion-associated renal cell carcinoma is a rare renal malignancy and mainly occurs in females.Its diagnosis relies mainly on histopathology,immunohistochemistry,and FISH assay.

关 键 词：肾肿瘤 Xp11.2易位/TFE3基因融合 免疫组织化学 荧光原位杂交 

分 类 号：R737.11[医药卫生—肿瘤]