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,,21():789-794.[doi:10.3760/cma.j.cn101785-202106025-016]
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Pediatric cystic nephroma with DICER1 mutation:a case report and a review of literature

Journal of Clinical Pediatric Surgery[ISSN:1671-6353/CN:43-1380/R] volume: 第21卷 Number: 2022 08 Page: 789-794 Column: 临床研究与实践 Date of publication: 2022-08-28
Author(s):
Zhu Linfeng1;  Shen Yiding1;  Fu Junfen2
1. Department of Urology, Children’s Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, 310052, China;
2. Department of Endocrinology, Children’s Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, 310052, China
Keywords:
Pediatric Cystic Nephroma; DICER1 Gene Mutation; Child
DOI:
10.3760/cma.j.cn101785-202106025-016
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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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

Last Update: 1900-01-01