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Copy number assessment in the genomic analysis of CNS neoplasia: An evidence-based review from the cancer genomics consortium (CGC) working group on primary CNS tumors.
Cancer Genetics ( IF 1.4 ) Pub Date : 2020-02-26 , DOI: 10.1016/j.cancergen.2020.02.004
Stewart G Neill 1 , Jennifer Hauenstein 1 , Marilyn M Li 2 , Yajuan J Liu 3 , Minjie Luo 2 , Debra F Saxe 1 , Azra H Ligon 4
Affiliation  

The period from the 1990s to the 2010s has witnessed a burgeoning sea change in the practice of surgical neuropathology due to the incorporation of genomic data into the assessment of a range of central nervous system (CNS) neoplasms. This change has since matured into the adoption of genomic information into the definition of several World Health Organization (WHO)-established diagnostic entities. The data needed to accomplish the modern diagnosis of CNS neoplasia includes DNA copy number aberrations that may be assessed through a variety of mechanisms. Through a review of the relevant literature and professional practice guidelines, here we provide a condensed and scored overview of the most critical DNA copy number aberrations to assess for a selection of primary CNS neoplasms.



中文翻译:

中枢神经系统肿瘤形成的基因组分析中的拷贝数评估:癌症基因组学联合会(CGC)工作组对中枢神经系统原发性肿瘤的循证评估。

从1990年代到2010年代,由于将基因组数据纳入了一系列中枢神经系统(CNS)肿瘤的评估中,外科神经病理学实践发生了巨大的变化。此后,这种变化已经成熟,将基因组信息纳入了世界卫生组织(WHO)建立的几个诊断实体的定义。完成CNS瘤形成的现代诊断所需的数据包括DNA拷贝数异常,可以通过多种机制进行评估。通过查阅相关文献和专业实践准则,在这里我们提供了最关键的DNA拷贝数畸变的简明和评分总览,以评估对原发性CNS肿瘤的选择。

更新日期:2020-02-26
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