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高危神经母细胞瘤分子遗传学特征研究进展
引用本文:鲁冬芳,陈希,舒强. 高危神经母细胞瘤分子遗传学特征研究进展[J]. 中华小儿外科杂志, 2021, 0(1): 81-87
作者姓名:鲁冬芳  陈希  舒强
作者单位:浙江大学医学院附属儿童医院实验检验中心;浙江省新生儿疾病(诊治)重点实验室
摘    要:近年来,随着深度基因测序技术和生物信息学分析手段的进步,对恶性肿瘤的分子遗传学机制和个体化差异的研究不断深入。本文将近年来对高危神经母细胞瘤的分子遗传学特征的研究进展进行文献综述,对其在染色体水平异常、基因突变、转录调控以及表观遗传修饰几个方面的进展进行了总结,并简要介绍随着分子遗传学机制研究的深入而带来的肿瘤分层诊断、靶向治疗、精准治疗的新思路和新策略。

关 键 词:神经母细胞瘤  非编码RNA  分子遗传学

Recent advances in molecular genetic characterization of high-risk neuroblastoma
Lu Dongfang,Chen Xi,Shu Qiang. Recent advances in molecular genetic characterization of high-risk neuroblastoma[J]. Chinese Journal of Pediatric Surgery, 2021, 0(1): 81-87
Authors:Lu Dongfang  Chen Xi  Shu Qiang
Affiliation:(Experimental Laboratory Center,Affiliated Children's Hospital,Zhejiang University School of Medicine,Hangzhou 310052,China;Key Laboratory of Diagnosing and Treating Neonatal Diseases of Zhejiang Province,Hangzhou 310052,China)
Abstract:With recent advances of in-depth gene sequencing technology and bioinformatics analysis,molecular genetic mechanisms and individual differences of malignant tumors have been further elucidated.With a literature review of high-risk neuroblastomas,molecular genetic features,chromosomal abnormalities,gene mutations,transcriptional regulations and epigenetic modifications were summarized.Also tumor layered diagnosis,targeted treatment and precise therapeutics were discussed.
Keywords:Neuroblastoma  Non-coding RNA  Molecular genetics
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