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

作　　者：万海玉 董岿然[2] 方园 王一真 陈莲 WAN Haiyu;DONG Kuiran;FANG Yuan;WANG Yizhen;CHEN Lian(Department of Pathology,Anhui Hospital,Pedoatroc Hospital,Fudan University(Children’s Hospital,Anhui Province),Hefei 230051;Department of Surgery,Children’s Hospital,Fudan University,Shanghai 201102;Department of Pathology,Children’s Hospital,Fudan University,Shanghai 201102,China)

机构地区：[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

出　　处：《临床与病理杂志》2024年第6期901-906,共6页Journal of Clinical and Pathological Research

基　　金：安徽医科大学校科研基金(2021xkj109)。

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。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 

分 类 号：R739.4[医药卫生—肿瘤]