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Rare cases of a second recurrence of nephroblastoma with MLLT1 gene mutation: case report and literature review

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机构： [1]Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China. [2]Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, Sichuan, China. [3]Key Laboratory of Development and Diseases of Women and Children of Sichuan Province, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China. [4]West China Medical School of Sichuan University, Chengdu, Sichuan, China. [5]The Cardiac Development and Early Intervention Unit, West China Institute of Women and Children's Health, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China.

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关键词： nephroblastoma Wilms tumor recurrence MLLT1 gene mutation

摘要：

Nephroblastoma or Wilms tumor is the most common tumor of the urinary system in childhood. The survival rate can reach more than 90% after multidisciplinary treatment, but there is still a certain recurrence rate. In recent years, domestic and foreign scholars have analyzed the gene mutations related to the recurrence of nephroblastoma from the genetics or epigenetics perspective. However, few reports on the relationship between MLLT1 and the pathogenesis have been reported; patients with MLLT1 gene mutations are often associated with poor prognosis. In this case, we report the recurrence of nephroblastoma with MLLT1 gene mutation and review relevant literature. The studies on molecular genetic mechanism will provide a theoretical basis for early warning, optimize individualized treatment plan, and are important for improving prognosis.Copyright © 2024 Dai, Chen, He, Gao and Guo.

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大类 | 3 区医学

小类 | 3 区肿瘤学

第一作者：

第一作者机构： [1]Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China. [2]Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, Sichuan, China. [3]Key Laboratory of Development and Diseases of Women and Children of Sichuan Province, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China.

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通讯作者：

通讯机构： [1]Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China. [2]Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, Sichuan, China. [3]Key Laboratory of Development and Diseases of Women and Children of Sichuan Province, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China. [5]The Cardiac Development and Early Intervention Unit, West China Institute of Women and Children's Health, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China.

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Rare cases of a second recurrence of nephroblastoma with MLLT1 gene mutation: case report and literature review

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