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中华腔镜泌尿外科杂志(电子版)

中华腔镜泌尿外科杂志(电子版) ›› 2022, Vol. 16 ›› Issue (04) : 325 -330. doi: 10.3877/cma.j.issn.1674-3253.2022.04.009

临床研究

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
吕逸清1, 谢华1,†(), 周立军1, 陈艳1, 汪亚平1, 陈方1   
  1. 1. 200062　上海市儿童医院，上海交通大学附属儿童医院泌尿外科
  • 收稿日期:2021-05-10 出版日期:2022-08-01
  • 通信作者: 谢华

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

Yiqing Lyu1, Hua Xie1,†(), Lijun Zhou1, Yan Chen1, Yaping Wang1, Fang Chen1   

  1. 1. Department of Urology, Shanghai Children’s Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200062, China
  • Received:2021-05-10 Published:2022-08-01
  • Corresponding author: Hua Xie
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吕逸清, 谢华, 周立军, 陈艳, 汪亚平, 陈方. 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[J]. 中华腔镜泌尿外科杂志(电子版), 2022, 16(04): 325-330.

Yiqing Lyu, Hua Xie, Lijun Zhou, Yan Chen, Yaping Wang, Fang Chen. Robotic-assisted laparoscopic radical nephrectomy for pediatric renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene fusion[J]. Chinese Journal of Endourology(Electronic Edition), 2022, 16(04): 325-330.

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。

关键词: 肾细胞癌, Xp11.2基因, TFE3基因, 儿童, 机器人, 隐蔽切口
Objective

To evaluate the feasibility and outcomes of robotic-assisted laparoscopic radical nephrectomy for pediatric renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene fusion.

Methods

A 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.

Results

A 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.

Conclusions

Robotic 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.

Key words: Renal cell carcinoma, Xp11.2 gene, TFE3 gene, Pediatric, Robot, Concealed incision
图1~9 肾癌患儿术前影像学资料、术中术后照片及病理注：图1为术前彩超，图2为术前CT，图3为术前MR，图4为阻断左肾动脉，图5为阻断左肾静脉，图6~7术后标本大体观及剖面观，图8为病理TFE3染色100×，红色箭头所指均为TFE3染色阳性的肿瘤细胞，图9为病理HE染色40×，黄色框内为特征性的透明细胞组成的巢状结构
表1 两例肾癌患儿临床资料
病例 性别 年龄 主诉 体征 超声 CT 磁共振 NSE(ng/ml) 24 h尿VMA(mg) AFP(ng/ml)
患者1 女 4岁5个月 反复无痛性肉眼血尿3个月 未及腹部包块 左肾中部见3.8 cm ×3.2 cm×3.6 cm稍高回声包块 左肾中下极见3.4 cm ×2.7 cm×3.1 cm混杂高密度包块，平扫值59 Hu，内见大片钙化，增强后112~177 Hu 左肾中下极内可见一类圆形软组织团块信号影，边界尚清楚，大小约3.4 cm×2.8 cm×2.9 cm，内部信号不均，T1WI等信号为主，T2WI等高信号，DWI弥散受限改变，增强后轻度强化 22.29 2.3 1.25
患者2 男 6岁3个月 无痛性肉眼血尿2 d 未及腹部包块 左肾中上部3.0 cm ×3.2 cm×2.5 cm高回声包块 左肾上部见2.8 cm× 2.5 cm×3.7 cm密度不均包块，平扫值58 Hu，增强后为78 Hu 左肾上部见一椭圆形异常信号影，边界尚清，大小约2.5 cm×3.1 cm ×3.1 cm，T1WI呈高低信号，T2WI呈低信号混有片状稍高信号，DWI呈弥散受限征象，增强后局部呈轻度强化 30.49 1.7 0.92
表2 两例肾癌患儿手术具体资料
病例 总手术耗时（min) 游离肾门时间（min） 结扎肾血管时间（min） 术中估计出血量（ml） 肿瘤大体观
患者1 235 20 30 50 瘤体约3.5 cm×3 cm×2.7 cm，剖面灰黄色，质软，部分呈囊性
患者2 242 15 27 45 瘤体约3.0 cm×2.2 cm×2.7 cm，剖面灰红色，质软
表3 Xp11.2易位型肾癌亚型[5]
  易位 融合基因
1 t(X;1)(p11.2;q21) PRCC-TFE3
2 t(X;17)(p11.2;q25) ASPL(ASPSCR1)- TFE3
3 t(X;1)(p11.2;P34) SFPQ(PSF)-TFE3
4 t(X;17)(p11.2;q23) CLTC-TFE3
5 t(X;3)(p11.2;q21) PARP14 -TFE3
6 t(X;10)(p11.2;q23) 未知-TFE3
7 t(X;17)(p11.2;q21.33) LUC7L3-TFE3
8 t(X;19)(p11.2;q13.3) KHSRP-TFE3
9 t(X;17)(p11.2;p13) DVL2-TFE3
10 t(X;22)(p11.2;q11.21) MED15-TFE3
11 t(X;6)(p11.2;q25.3) ARIDB-TFE3
12 t(X;5)(p11.2;q31.2) MATR3-TFE3
13 t(X;1)(p11.2;p31.1) FUBP1-TFE3
14 t(X;11)(p11.2;q13.1) NEAT1-TFE3
15 t(X;10)(p11.2;q22.2) KAT6B-TFE3
16 inv(X)(p11.2;q12) NONO(p54nrb)- TFE3
17 inv(X)(p11.2;p11.3) RBM10-TFE3
18 inv(X)(p11.23;p11.23) il GRIPAP1
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