[1]吕凡,施佳,程千千,等.儿童Xp11.2易位/TFE3基因融合相关性肾癌单中心诊疗分析[J].临床小儿外科杂志,2022,21(12):1128-1133.[doi:10.3760/cma.j.cn101785-202208031-006]
　Lyu Fan,Shi Jia,Cheng Qianqian,et al.Clinical analysis of children with Xp11.2 translocation/TFE3 gene fusion renal cancer:single-center experience[J].Journal of Clinical Pediatric Surgery,2022,21(12):1128-1133.[doi:10.3760/cma.j.cn101785-202208031-006]
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儿童Xp11.2易位/TFE3基因融合相关性肾癌单中心诊疗分析

《临床小儿外科杂志》[ISSN:1671-6353/CN:43-1380/R] 卷: 第21卷 期数: 2022年12期 页码: 1128-1133 栏目: 专题·儿童泌尿生殖系肿瘤 出版日期: 1900-01-01
Title:
Clinical analysis of children with Xp11.2 translocation/TFE3 gene fusion renal cancer:single-center experience
作者:
吕凡1;  施佳1;  程千千1;  庄雨佳1;  耿红全2;  吴晔明1
1 上海交通大学医学院附属新华医院儿普外科, 上海 200092;
2 上海交通大学医学院附属新华医院儿泌尿外科, 上海 200092
Author(s):
Lyu Fan1;  Shi Jia1;  Cheng Qianqian1;  Zhuang Yujia1;  Geng Hongquan2;  Wu Yeming1
1 Department of Pediatric General Surgery, Shanghai Xinhua Hospital, Affiliated with Shanghai Jiao Tong University School of Medicine, Shanghai 200092, China;
2 Department of Pediatric Urology, Shanghai Xinhua Hospital, Affiliated with Shanghai Jiao Tong University School of Medicine, Shanghai 200092, China
关键词:
癌;  肾细胞; 外科手术; 基因融合; 儿童
Keywords:
Carcinoma;  Renal Cell; Surgical Procedures; Gene Fusion; Child
DOI:
10.3760/cma.j.cn101785-202208031-006
摘要:
目的 探讨儿童 Xp11.2易位/TFE3基因融合相关性肾癌的诊疗经验。方法 回顾性分析2017年1月至2021年6月上海交通大学医学院附属新华医院儿普外科收治的11例肾 Xp11.2易位/TFE3基因融合相关性肾癌患儿临床资料。其中男3例,女8例;肿瘤位于右侧6例,左侧5例。患儿诊断时年龄1~12岁,中位年龄6岁。首诊原因包括血尿6例,腹痛2例,尿频1例,肿块1例,疑似性早熟1例。所有患儿未经化疗直接行手术切除。手术方式均为根治性肾切除术。结果 患儿均顺利完成手术,手术时间100~135 min。术中出血量5~30 mL。3例出现局部淋巴结转移,1例肿瘤侵犯肾周脂肪。肿瘤标本病理检测符合 Xp11.2易位/TFE3基因易位相关肾细胞癌,含 Xp11.2易位/TFE3基因融合。肾癌Robson分期Ⅰ期7例,Ⅱ期1例,Ⅲb期3例。患儿术后均未接受化疗及放疗,术后随访6~38个月,随访中1例Ⅲb期患儿出现肿瘤复发转移,给予舒尼替尼治疗3个月后死亡;其余患儿均无事件生存。结论 Xp11.2易位/TFE3基因融合相关性肾癌是儿童、青少年易发的肾癌类型。发病年龄与肾母细胞瘤发病年龄有重叠。早期发现、早期行根治性手术可获得良好预后。临床应重视淋巴结切除在儿童肾细胞癌治疗中的作用。未来需要寻找有效的辅助治疗手段以改善复发肿瘤的预后。
Abstract:
Objective To summarize the experiences of diagnosing and treating of Xp11.2 translocation/TFE3 gene fusion-related renal cancer in children.Methods From January 2017 to June 2021,clinical data were retrospectively reviewed for 11 children of Xp11.2 translocation/TFE3 gene fusion-related renal cancer.There were 3 boys and 8 girls with a median age of 6(1-12)years.The involved side was left(n=5)and right(n=6).The reasons for initial diagnosis included hematuria(n=6),abdominal pain(n=2),frequent urination(n=1),abdomen mass(n=1)and suspected precocious puberty(n=1).Upfront radical nephrectomy was performed.Results All operations were successfully completed.Operative duration was(100-135)min and intraoperative blood loss was(5-30)ml.There were local lymph node metastasis(n=3)and tumor invasion of perirenal tissue(n=1).Pathological examination of tumor specimens was consistent with Xp11.2 translocation/TFE3 gene fusion-related renal carcinoma,containing Xp11.2 translocation/TFE3 gene fusion.Clinical stages were Ⅰ(n=7),Ⅱ(n=1)and Ⅲb(n=3)according to Robson’s staging system.During a follow-up period of 6 to 38 months,1 child of stage Ⅲb had tumor recurrence and metastasis and received sunitinib for 3 months until death.The remainders survived without incident.None of them received chemoradiotherapy.Conclusion Xp11.2 translocation/TFE3 gene fusion-related renal cancer is a common type of renal cancer in children and adolescents.The age of onset overlaps with that of Wilms tumor.Early detection and surgical eradication yield a decent prognosis.Attention should be paid to the role of lymph node dissection.In the future,it is still necessary to develop effective adjuvant therapy to improve the prognosis of recurrent tumor.

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备注/Memo

收稿日期:2022-8-17。
通讯作者:吴晔明,Email:wuyeming@xinhuamed.com.cn;耿红全,Email:genghongquan@xinhuamed.com.cn

更新日期/Last Update: 1900-01-01