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。
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 wereⅠ(n=7),Ⅱ(n=1)andⅢb(n=3)according to Robson's staging system.During a follow-up period of 6 to 38 months,1 child of stageⅢb 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.
作者
吕凡
施佳
程千千
庄雨佳
耿红全
吴晔明
Lyu Fan;Shi Jia;Cheng Qianqian;Zhuang Yujia;Geng Hongquan;Wu Yeming(Department of Pediatric General Surgery,Shanghai Xinhua Hospital,Affiliated with Shanghai Jiao Tong University School of Medicine,Shanghai 200092,China;Department of Pediatric Urology,Shanghai Xinhua Hospital,Affiliated with Shanghai Jiao Tong University School of Medicine,Shanghai 200092,China)
出处
《临床小儿外科杂志》
CAS
CSCD
2022年第12期1128-1133,共6页
Journal of Clinical Pediatric Surgery
关键词
癌
肾细胞
外科手术
基因融合
儿童
Carcinoma,Renal Cell
Surgical Procedures
Gene Fusion
Child