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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(+)。
Objective To investigate the clinicopathological features, differential diagnosis, treatment and prognosis of Xp11.2 translocated renal cell carcinoma. Methods Three cases of Xp11.2 translocated renal cell carcinoma were collected and the clinical data of the patients were reviewed. Histological and immunohistochemical studies were performed and the literature was reviewed. Results There were 2 males and 1 females in 3 patients, aged from 10 to 40 years with a mean age of 26.7 years. The tumor sizes 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. Under light microscope, the tumor tissue was nested, papillary or pseudopapillary arrangement. The tumor cells were transparent to eosinophilic cytoplasm with clear cell boundaries. One of the nucleolus of nucleus was clear and the gravel was visible in all the three tumor tissues. Immunohistochemistry: TFE3 was strongly (+) in 3 cases, weak (+) to + (+) in RCC and CD10, 1 case of vimentin strong, 2 cases of CK7 strong and 3 cases of EMA. One patient in this group was lost to follow-up. One patient was found to have had multiple systemic bone metastases. One patient was stable at 3 months of follow-up and had no recurrence. Conclusion Xp11.2 translocation of renal cell carcinoma is a rare tumor, the diagnosis mainly based on pathological morphology and immunohistochemical TFE3 (+).