摘要
目的:总结儿童Xp11.2易位/TFE3基因融合相关性肾癌的临床特点,以提高对该病的认识。方法:回顾性分析温州医科大学附属第二医院2015年1月至2023年12月收治的5例Xp11.2易位/TFE3基因融合相关性肾癌患儿的资料,并结合相关文献分析其临床特点。结果:5例患儿中男1例,女4例,发病年龄5~15岁,中位年龄11岁。肿瘤位于左肾2例,右肾3例。首发症状包括1例肉眼血尿、1例腹部膨隆、2例体检意外发现以及1例运动后腰腹痛。其中4例患儿接受了根治性肾切除术,1例接受了部分肾切除术。所有手术均未出现并发症。术后免疫组织化学染色显示所有患儿TFE3阳性。术后1例患儿失访,4例患儿随访3个月至6.5年。1例患儿术后接受舒尼替尼靶向治疗2年后死亡,其余3例未接受化疗及靶向治疗,术后无复发或转移。结论:儿童Xp11.2易位/TFE3基因融合相关性肾癌虽罕见,但预后较好;影像学确定病变部位,特异性相对有限;诊断主要依赖免疫组化;根治性肾切除术是有效的主要治疗手段。
Objective:To summarize the clinical characteristics of pediatric renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene fusion for the better understanding of its features.Methods:A retrospective analysis was conducted on the data of 5 children diagnosed with Xp11.2 translocation/TFE3 gene fusion-associated renal cell carcinoma treated in the Second Affiliated Hospital of Wenzhou Medical University from January 2015 to December 2023,combined with a literature review to analyze its clinical characteristics.Results:Of the 5 cases,1 was male and 4 females,with the onset age ranging from 5 to 15 years old and a median age of 11 years.Tumors were located in the left kidney in 2 cases and in the right kidney in 3 cases.Initial symptoms included gross hematuria in 1 case,abdominal distension in another,incidental findings during physical examinations in 2 cases,and post-exercise lumbar and abdominal pain in 1 case.Four children underwent radical nephrectomy,and one received partial nephrectomy.No complications occurred in any of the surgeries.Postoperative immunohistochemical staining showed TFE3 positive in all children.One child was lost to follow-up after surgery,and the remaining 4 were followed up for 3 months up to 6.5 years.One child died two years after receiving sunitinib targeted therapy postoperatively,while the remaining three did not receive chemotherapy or targeted therapy and had no recurrence or metastasis after surgery.Conclusion:Although pediatric renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene fusion is rare,it has a relatively good prognosis.Imaging for identifying lesion locations has limited specificity;its diagnosis relies mainly on immunohistochemistry.Radical nephrectomy serves as an effective primary treatment option.
作者
刘淼清
周平江
徐磊
陈聪德
李仲荣
LIU Miaoqing;ZHOU Pingjiang;XU Lei;CHEN Congde;LI Zhongrong(Department of Pediatric Surgery,the Second Affiliated Hospital&Yuying Children’s Hospital of Wenzhou Medical University,Wenzhou 325027,China;Department of Surgery,Hubei Maternal and Child Health Hospital,Wuhan 430064,China)
出处
《温州医科大学学报》
CAS
2024年第6期482-486,共5页
Journal of Wenzhou Medical University
关键词
儿童肾癌
TFE3
免疫组化
预后
pediatric renal carcinoma
TFE3
immunohistochemistry
prognosis
