肾外Xp11.2易位/TFE3基因融合相关性肾细胞癌1例并文献复习
One Case of Extrarenal Renal Carcinomas Associated with Xp11.2 Translocations/TFE3 Gene Fusions and Literature Review
DOI: 10.12677/ACM.2021.113149, PDF,   
作者: 李国瑞*, 查立超, 曲腾飞, 郭锦辉, 邱法波#：青岛大学附属医院肝胆胰外科，山东 青岛
关键词: 肾细胞癌；Xp11.2易位；TFE3基因；Renal Cell Carcinoma； Xp11.2 Translocation； TFE3 Gene
摘要: 目的：提高对Xp11.2易位/TFE3基因融合相关性肾细胞癌(Xp11.2 RCC)的认识，降低误诊率。方法：回顾性分析我院诊治的１例Xp11.2 RCC患者的临床资料，并查阅相关文献进行复习。结果：患者为19岁女性，以间歇性左下腹痛为首发症状。下腹部增强CT示左侧腹膜后占位性病变，诊断为腹膜后肿瘤，行达芬奇机器人辅助下腹膜后肿瘤切除术，术后病理报告为Xp11.2 RCC。结论：本病临床罕见，影像学上可能不表现为明显的肾脏占位，术前难以明确诊断，唯一可能获得良好预后的方案是手术彻底切除肿瘤。
Abstract: Objective: To improve the understanding of renal carcinomas associated with Xp11.2 translocations/TFE3 gene fusions (Xp11.2 RCC) and decrease misdiagnosis rate. Methods: A retrospective analysis was performed for the clinical data of a patient with Xp11.2 RCC who was diagnosed and treated in our hospital, and literature review was also performed. Results: The patient was a 19-year-old woman with an initial symptom of intermittent pain of left lower abdomen. Lower abdomen contrast-enhanced computed tomography showed a left retroperitoneal space-occupying lesion, diagnosed as a retroperitoneal tumor; with the help of Da Vinci robot retroperitoneal tumor resection was performed; postoperative pathological examination suggested Xp11.2 RCC. Conclusion: This disease is rare in clinic, and it may not be manifested as an obvious kidney occupation in imaging. It is difficult to confirm the diagnosis before surgery. The only option with a good prognosis is complete surgical removal of the tumor.
文章引用：李国瑞, 查立超, 曲腾飞, 郭锦辉, 邱法波. 肾外Xp11.2易位/TFE3基因融合相关性肾细胞癌1例并文献复习[J]. 临床医学进展, 2021, 11(3): 1045-1050. https://doi.org/10.12677/ACM.2021.113149

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