State of the science: molecular classifications of breast cancer for clinical diagnostics.
State of the science: molecular classifications of breast cancer for clinical diagnostics.
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科学现状：用于临床诊断的乳腺癌分子分类。
DOI：
10.1016/j.clinbiochem.2004.05.002
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发表时间：
2004
期刊：
影响因子：
--
通讯作者：
Bernard,PhilipS
中科院分区：
文献类型：
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作者：
Robison,JohnE;Perreard,Laurent;Bernard,PhilipS
在过去的几年里，基因组学研究已经开始开发基于基因表达的肿瘤分类——这一举措有望彻底改变癌症医学。高通量基因组平台，例如微阵列和 SAGE，已经发现了与当前分期中使用的重要临床参数相关的基因表达特征，并提供了可提高护理标准的额外信息。尽管实施用于预后和治疗的分子分类法可能会使癌症患者受益，但在当前的诊断框架内使用这些检测方法仍然存在重大障碍。由于大多数基因组检测都是从新鲜组织中进行的，因此需要改变福尔马林固定和石蜡包埋组织的做法，或者调整检测方法以用于降解的 RNA 样本。迄今为止，即使是最成熟的数据集，例如乳腺癌的分子分类，仍然达不到将结果推广到治疗大量人群所需的患者数量。为了大规模实施这些检测，需要对样品采购、制备和分析进行标准化。当然，患者护理的最大改进将来自定制疗法，因为基因组学与随机分组接受不同治疗的临床试验相结合。本手稿回顾了当前的护理标准，介绍了乳腺癌基因组检测开发所取得的进展，并讨论了在临床环境中实施这些新检测的选项。
Over the past few years, the study of genomics has embarked on developing gene expression-based classifications for tumors—an initiative that promises to revolutionize cancer medicine. High-throughput genomic platforms, such as microarray and SAGE, have found gene expression signatures that correlate to important clinical parameters used in current staging and are providing additional information that will improve standard of care. Although implementing a molecular taxonomy for prognosis and treatment would likely benefit cancer patients, there remain significant obstacles to using these assays within the current diagnostic framework. Since most genomic assays are being performed from fresh tissue, there is a need to either change the practice of formalin-fixing and paraffin-embedding tissue or adapting the assays for use on degraded RNA specimens. To date, even the most mature data sets, such as molecular classifications for breast cancer, still fall short of the number of patients needed to generalize the results to treating large populations. To implement these assays in large scale, there will need to be standardization of sample procurement, preparation, and analysis. Certainly, the greatest improvements in patient care will come through tailored therapies as genomics is coupled with clinical trials that randomize cohorts to different treatments. This manuscript reviews the current standards of care, presents progress that is being made in the development of genomic assays for breast cancer and discusses options for implementing these new tests into the clinical setting.