儿童Xp11.2易位/TFE3基因融合相关性肾癌单中心诊疗分析

Clinical analysis of children with Xp11.2 translocation/TFE3 gene fusion renal cancer:single-center experience

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.