Zhu Linfeng,Shen Yiding,Fu Junfen.Pediatric cystic nephroma with DICER1 mutation:a case report and a review of literature[J].Journal of Clinical Pediatric Surgery,2022,21(08):789-794.[doi:10.3760/cma.j.cn101785-202106025-016]
儿童囊性肾瘤伴DICER1基因突变1例并文献复习
- Title:
- Pediatric cystic nephroma with DICER1 mutation:a case report and a review of literature
- 关键词:
- 囊性肾瘤; DICER1基因突变; 儿童
- Keywords:
- Pediatric Cystic Nephroma; DICER1 Gene Mutation; Child
- 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。
- Abstract:
- 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.
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备注/Memo
收稿日期:2021-6-9。
基金项目:浙江省医药卫生科技计划临床研究应用项目(2022481900)
通讯作者:傅君芬,Email:fjf68@zju.edu.cn