儿童机器人辅助腹腔镜下Xp11.2易位/TFE3基因融合相关性肾癌根治术的初步探讨

目的探讨儿童机器人辅助腹腔镜下Xp11.2易位/TFE3基因融合相关性肾癌根治术的安全及疗效性。 方法回顾性分析2017至2019年我院采用机器人辅助腹腔镜下对Xp11.2易位型肾癌患儿行肾癌根治术的临床资料，并结合国内外文献对本病的流行病学特点、临床表现、病理、影像及治疗和预后进行总结分析。 结果2例患儿，年龄分别为4岁5个月及6岁3个月，男性、女性各1例，主诉均为无痛性肉眼血尿，超声、CT及磁共振提示左肾占位。通过机器人辅助腹腔镜下完成根治性肾切除手术，未中转开放。术后病理检查报告肿瘤剖面灰黄色，质软，主要由透明细胞组成，瘤细胞伴有嗜酸性颗粒胞浆，组成巢状结构，透明变性的结节内可见散在砂粒体。免疫组化显示TEF3（+），CD10（+），CK（-），WT1（-），Vimentin（-），EMA（-），Ki-67（+2%），Bcl-2（+），CD34（-），S100（-），DES（-），CD99（-），INI-1（+），符合Xp11.2易位型肾癌。术后给予定期随访，未见肿瘤复发及转移。 结论机器人辅助腹腔镜下肾癌根治术可以安全、有效地应用于儿童早期Xp11.2易位型肾癌的治疗。

Robotic-assisted laparoscopic radical nephrectomy for pediatric renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene fusion

ObjectiveTo evaluate the feasibility and outcomes of robotic-assisted laparoscopic radical nephrectomy for pediatric renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene fusion. MethodsA retrospective study was performed of patients who underwent robotic assisted laparoscopic approach for renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene fusion at our institution between 2017 to 2019. The epidemiological character, clinical data, histologic findings, image data and outcomes of these cases were reviewed together with the related literatures. ResultsA 4-year-old girl and a 6-year-old boy with gross hematuria were diagnosed with left renal tumor by ultrasound, CT and MRI. Two patients underwent robotic assisted laparoscopic radical nephrectomy without conversion to open surgery. Grossly, The tumor was soft and the cut surface was brown. Microscopically, the tumor predominantly composed of clear cells. The tumor cells were rich of eosinophilic granular cytoplasm. Immunohistochemically, the tumor cells displayed as TEF3(+), CD10(+), CK(-), WT1(-), Vimentin(-), EMA(-), Ki-67(+2%), Bcl-2(+), CD34(-), S100(-), DES(-), CD99(-) and INI-1(+). The pathological diagnosis was renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene fusion. There was no perioperative complications, and all patients were survived without recurrence or metastasis during the follow-up period. ConclusionsRobotic assisted laparoscopic radical nephrectomy can be safely and effectively performed on early staged pediatric renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene fusion.