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。

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。

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。

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。

To investigate the clinicopathological features, diagnosis, and differential diagnosis of Xp11.2 translocation/ TFE3 fusion-related renal cell carcinoma.

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.

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/P504S varied among cases. The expression of CAIX, CK7, and CD117 was negative in all cases. All cases showed positive results in the FISH assay.

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.