Dai Yiling, Chen Xin, He Guoqian, Gao Ju, Guo Xia
Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China.
Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, Sichuan, China.
Front Oncol. 2024 Dec 2;14:1487544. doi: 10.3389/fonc.2024.1487544. eCollection 2024.
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 and the pathogenesis have been reported; patients with gene mutations are often associated with poor prognosis. In this case, we report the recurrence of nephroblastoma with 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.
肾母细胞瘤或威尔姆斯瘤是儿童泌尿系统最常见的肿瘤。多学科治疗后生存率可达90%以上，但仍有一定的复发率。近年来，国内外学者从遗传学或表观遗传学角度分析了与肾母细胞瘤复发相关的基因突变。然而，关于[此处原文缺失相关内容]与发病机制之间关系的报道较少；[此处原文缺失相关基因名称]基因突变的患者往往预后较差。在此，我们报告1例[此处原文缺失相关基因名称]基因突变的肾母细胞瘤复发病例并复习相关文献。对分子遗传机制的研究将为早期预警提供理论依据，优化个体化治疗方案，对改善预后具有重要意义。
