首页|DNA损伤反应缺陷与高风险神经母细胞瘤

DNA损伤反应缺陷与高风险神经母细胞瘤

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神经母细胞瘤(neuroblastoma,NB)是儿童最常见的颅外实体肿瘤.其中高风险患者进展快、预后差.分子遗传学上,高风险NB特征性表现为染色体不稳定性,以DNA损伤反应(DNA damage response,DDR)缺陷为主.目前已有靶向DDR的抑制剂(如ATR、ATM、PARP、CHK1和WEE1抑制剂)用于高风险NB的治疗.应用DDR缺陷及靶向抑制剂等方式可为高风险NB的精准诊断及治疗提供参考,有望成为治疗高风险NB的新策略.
Defects in DNA damage response and high-risk neuroblastoma
Neuroblastoma(NB)is the most common extracranial solid tumor in children,with the high-risk patients characterized by rapid progression and poor prognosis.Molecular genetics reveal that high-risk NB is typically marked by chromosomal instability,primarily due to defects in the DNA damage response(DDR).Currently,targeted DDR inhibitors,such as ATR,ATM,PARP,CHK1,and WEE1 inhibitors,are being used in the treatment of high-risk NB.The application of DDR defects and targeted inhibitors in high-risk NB offers a reference for precise diagnosis and treatment,potentially providing a new strategy for treating high-risk NB.

neuroblastomahigh riskchromosomal instabilityDNA damage responsetargeted therapy

万海玉、董岿然、方园、王一真、陈莲

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复旦大学附属儿科医院安徽医院(安徽省儿童医院)病理科,合肥 230051

复旦大学附属儿科医院外科,上海 201102

复旦大学附属儿科医院病理科,上海 201102

神经母细胞瘤 高风险 染色体不稳定 DNA损伤反应 靶向治疗

安徽医科大学校科研基金

2021xkj109

2024

临床与病理杂志
中南大学

临床与病理杂志

CSTPCD
影响因子:0.559
ISSN:1673-2588
年,卷(期):2024.44(6)
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