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[从面板诊断到全面基因组分析:信息肥胖还是赋能?]

[From panel diagnostics to comprehensive genomic analysis : Infobesity or empowerment?].

作者信息

Leichsenring J, Kazdal D, Ploeger C, Allgäuer M, Endris V, Volckmar A-L, Neumann O, Kirchner M, Penzel R, Rempel E, Budczies J, Schirmacher P, Fröhling S, Stenzinger A

机构信息

Pathologisches Institut, Molekularpathologisches Zentrum, Universitätsklinikum Heidelberg, Heidelberg, Deutschland.

Abteilung Translationale Medizinische Onkologie, Nationales Centrum für Tumorerkrankungen (NCT) Heidelberg und Deutsches Krebsforschungszentrum (DKFZ), Heidelberg, Deutschland.

出版信息

Pathologe. 2019 May;40(3):235-242. doi: 10.1007/s00292-019-0608-1.

Abstract

Precision oncology is obtaining a central role in the therapy of malignant diseases. The indication for targeted therapy is based on the identification of molecular targets for which next-generation sequencing (NGS) is commonly used nowadays. All approved predictive biomarkers and molecular targets, including gene fusions and copy number alterations, can be identified depending on panel design and method applied. Some clinical scenarios, however, may require more holistic genomic approaches, such as whole-genome/whole-exome and transcriptome analysis, which must be embedded in a clinical trial. Here, key aspects and applications of each method are summarized and discussed.

摘要

精准肿瘤学在恶性疾病治疗中正发挥着核心作用。靶向治疗的适应症基于分子靶点的识别,如今下一代测序(NGS)常用于此。根据所采用的检测板设计和方法,所有已获批的预测性生物标志物和分子靶点,包括基因融合和拷贝数改变,均可被识别。然而,某些临床情况可能需要更全面的基因组方法,如全基因组/全外显子组和转录组分析,这些方法必须纳入临床试验中。在此,将对每种方法的关键要点及应用进行总结和讨论。

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