Xp11.2易位/TFE3基因融合相关性肾癌1例报告及文献复习

Renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene fusion: Report of 1 cases and review of the literatures

目的:探讨Xp11.2易位/TFE3基因融合相关性肾癌的临床表现、诊断与治疗,以提高本病的诊治水平。方法:回顾性分析收治的1例Xp11.2易位/TFE3基因融合相关性肾癌患者临床资料,并结合最新文献对本病的病因学、病理学、影像学、分子生物学特征以及治疗和预后进行总结分析。结果:因右输尿管上段结石、左肾肿瘤同期行右输尿管切开取石术以及腹腔镜下保留肾单位左肾肿瘤切除术。肉眼见肿瘤包膜完整,剖面灰黄质软。术后病理检查报告为由透明细胞构成的乳头状结构,伴有嗜酸性颗粒胞浆的癌细胞组成的巢状结构。免疫组化显示cytokeratin(-),Vimentin(+),上皮膜抗原(EMA)(+),CD10(+)。诊断为Xp11.2易位/TFE3基因融合相关性肾癌。术后定期随访,未见肿瘤复发及转移。结论:Xp11.2易位/TFE3基因融合相关性肾细胞癌临床上罕见,成人患者恶性度高。早期诊断和治疗是提高其疗效的关键。

Objective： To discuss the clinical behavior, diagnosis and treatment of renal cell associated with Xp11. 2 translocation/TFE3 gene fusion. Methods： We reported one case of renal cell carcinoma associated with Xp11. 2 translocation/TFE3 gene fusion and studied historical literatures to review the clinical, pathology, imaging, and molecular biological features of this disease and discuss its diagnosis treatment and prognosis. Results： Due to the right upper ureterolith and left renal tumor, the patients received right ureterolithotomy and left laparo- scopic nephron-sparing surgery. The cut surface of the well-circumscribed tumor showed a yellowish color with solid consistency. The HE staining showed the tumor has a mixed papillary architecture with nested patterns of clear and eosinophilic cells. Immunohistochemical staining showed that CD10, Vimentin and epithelial membrane antigen（EMA） were positive while cytokeratin was negative in the patient. The patient was diagnosed as renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene fusion. No tumor recurrence and metastasis occurred during the postoperative follow-up of five months. Conclusions：Renal cell carcinoma associated with Xp11.2 trans- location/TFE3 gene fusion is rare and aggressive in adults. Early diagnosis and treatment is crucial for a good prognosis.