临床与病理杂志2024,Vol.44Issue(6) :901-906.DOI:10.11817/j.issn.2095-6959.2024.240047

DNA损伤反应缺陷与高风险神经母细胞瘤

Defects in DNA damage response and high-risk neuroblastoma

万海玉 董岿然 方园 王一真 陈莲
临床与病理杂志2024,Vol.44Issue(6) :901-906.DOI:10.11817/j.issn.2095-6959.2024.240047

DNA损伤反应缺陷与高风险神经母细胞瘤

Defects in DNA damage response and high-risk neuroblastoma

万海玉 1董岿然 2方园 1王一真 1陈莲3
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作者信息

  • 1. 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
  • 2. 复旦大学附属儿科医院外科,上海 201102
  • 3. 复旦大学附属儿科医院病理科,上海 201102
  • 折叠

摘要

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.

Abstract

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.

关键词

神经母细胞瘤/高风险/染色体不稳定/DNA损伤反应/靶向治疗

Key words

neuroblastoma/high risk/chromosomal instability/DNA damage response/targeted therapy

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基金项目

安徽医科大学校科研基金(2021xkj109)

出版年

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
参考文献量1
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