儿童囊性肾瘤伴DICER1基因突变1例并文献复习  

Pediatric cystic nephroma with DICER1 mutation:a case report and a review of literature

作　　者：诸林峰 沈一丁[1] 傅君芬[2] Zhu Linfeng;Shen Yiding;Fu Junfen(Department of Urology,Children's Hospital,Zhejiang University School of Medicine,National Clinical Research Center for Child Health,Hangzhou,310052,China;Department of Endocrinology,Children's Hospital,Zhejiang University School of Medicine,National Clinical Research Center for Child Health,Hangzhou,310052,China)

机构地区：[1]浙江大学医学院附属儿童医院泌尿外科、国家儿童健康与疾病临床医学研究中心,杭州310052 [2]浙江大学医学院附属儿童医院内分泌科、国家儿童健康与疾病临床医学研究中心,杭州310052

出　　处：《临床小儿外科杂志》2022年第8期789-794,共6页Journal of Clinical Pediatric Surgery

基　　金：浙江省医药卫生科技计划临床研究应用项目(2022481900)。

摘　　要：目的分析1例儿童囊性肾瘤伴DICER1基因突变患儿的临床资料并复习相关文献,以提高对此类疾病的认识。方法收集2020年11月1例儿童囊性肾瘤伴DICER1基因突变患儿的临床资料,总结临床特点、影像学表现、手术经过、病理和基因结果。通过PubMed、中国知网、万方等数据库检索相关文献,检索时间截至2021年5月。结果本例患儿术前B超、CT及MRI均提示左肾巨大囊实性肿块,边界尚清,患儿接受左瘤肾切除术,术中未发现肿大淋巴结,术后病理考虑囊性肾瘤,患儿血液及肿瘤组织均发现DICER1基因突变,随访6个月无肿瘤残余及复发。中文文献尚无儿童囊性肾瘤伴DICER1基因突变的病例报告,英文文献中,同时检测到胚系和体细胞突变的仅有6例报道。结论儿童囊性肾瘤较为少见,其发生机制与DICER1基因突变有关,手术切除是主要治疗方式,DICER1基因突变可致多种肿瘤,术后长期随访监测非常重要。Objective The clinical characteristics of a child with pediatric cystic nephroma with DICER1 mutation were analyzed,and the relevant literature was reviewed to improve the understanding of this disease.Methods Clinical data of a 13-month-old girl with pediatric cystic nephroma were retrospectively analyzed to summarize the clinical features,imaging findings,surgical procedures,pathologic findings and genetic test results.Relevant literatures were searched through PubMed,CNKI,WanFang and other databases,and the search time was as of May 2021.Results In this case,preoperative ultrasound,CT and MRI all suggested a large cystic solid mass of the left kidney with a clear boundary.The child underwent resection of the left kidney tumor without enlarged lymph nodes.Postoperative pathology suggested cystic nephroma.Both germline DICER1 mutation and somatic DICER1 mutation in the tumor were confirmed.There was no case report of pediatric cystic nephroma with DICER1 gene mutation in Chinese literature,and only 6 cases of both germline and somatic mutations were reported in English literature.Conclusion Pediatric cystic nephroma is rare,and its pathogenesis is related to DICER1 gene mutation.Surgical resection is the main treatment method,and DICER1 gene mutation can cause a variety of tumors,so long-term follow-up monitoring after surgery is very important.

关 键 词：囊性肾瘤 DICER1基因突变 儿童 

分 类 号：R737.11[医药卫生—肿瘤] R725.9[医药卫生—临床医学]