Xpl1.2易位性肾细胞癌3例临床病理特征分析

目的探讨Xp11.2易位性肾细胞癌的临床病理学特点及其鉴别诊断、治疗和预后。方法收集3例Xp11.2易位性肾细胞癌,复习患者的临床资料,进行组织学及免疫组化观察,并结合文献复习分析。结果 3例患者中男性2例,女性1例,年龄10～40岁,平均年龄26.7岁。肿块大小分别为2.5 cm×2.5 cm×2.8 cm、4.5 cm×3.5 cm×3.2 cm和8 cm×6.7 cm×9 cm。光镜下肿瘤组织呈巢状、乳头状或假乳头状排列,肿瘤细胞有大量透明至嗜酸性胞质,细胞界限清楚;1例细胞核核仁清晰,3例肿瘤组织中均可见砂砾体。免疫组化:3例肿瘤TFE3均强(+),RCC和CD10弱(+)至强(+);1例vimentin强(+),2例CK7强(+),3例EMA(-)。本组1例失访;1例发现时已全身多处骨转移;1例随访3个月病情稳定,无复发。结论 Xp11.2易位性肾细胞癌是一种少见肿瘤,诊断主要依据病理学形态和免疫组化TFE3(+)。

Xpl1.2 translocation renal cell carcinoma:a clinicopathological analysis

Objective Xp11.2 translocation renal cell carcinoma(Xp11.2 translocation RCC)is a rare tumor with unique clinicopathological features.The aim of this study was to investigate the clinicopathologic features,immunophenotype,differential diagnosis and prognosis of Xp11.2 translocation RCC.Methods Three cases of Xp11.2 translocation RCC were analyzed by light microscopy,immunohistochemistry and their clinical data,and the relative literatures were reviewed.Results There were two males and one female.The age of patients was 10 to 40 years old,the average age was 26.7 years.The sizes of the tumors were 2.5 cm×2.5 cm×2.8 cm,4.5 cm×3.5 cm×3.2 cm and 8 cm×6.7 cm×9 cm,respectively.The tumor tissues were consisted of nested,alveolar,papilary or pseudopapillary architecture,the tumor cells contained abundant clear to eosinophilic cytoplasm and well-defined cell borders.Psammoma bodies were visible in the three tumor tissues.By immuneohistochemistry,the three tumors were positive for TFE3,weakly to strongly expressed RCC antigen and CD10,one tumor strongly expressed vimentin(1/3),two tumors strongly expressed CK7(2/3),and all tumors were negative for EMA.Follow-up data(1-3 months) were also analyzed,one patient was lost to follow-up,one patient had multiple bone metastasis when the disease was found,one patient was stable and had no recurrence for 3 months after surgery.Conclusion Xp11.2 translocation RCC is a rare subtype of renal cell carcinoma.Pathologic diagnosis can be established when taken histopathologic findings and immunoreactivity for TFE3 protein into consideration.