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个性化肿瘤学中的基因检测与组织库:分析因素与机构因素

Genetic Testing and Tissue Banking for Personalized Oncology: Analytical and Institutional Factors.

作者信息

Miles George, Rae James, Ramalingam Suresh S, Pfeifer John

机构信息

Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, MO.

Department of Internal Medicine & Pharmacology, University of Michigan, Ann Arbor, MI.

出版信息

Semin Oncol. 2015 Oct;42(5):713-23. doi: 10.1053/j.seminoncol.2015.07.013. Epub 2015 Jul 14.

Abstract

Personalized oncology, or more aptly precision oncogenomics, refers to the identification and implementation of clinically actionable targets tailored to an individual patient's cancer genomic information. Banking of human tissue and other biospecimens establishes a framework to extract and collect the data essential to our understanding of disease pathogenesis and treatment. Cancer cooperative groups in the United States have led the way in establishing robust biospecimen collection mechanisms to facilitate translational research, and combined with technological advances in molecular testing, tissue banking has expanded from its traditional base in academic research and is assuming an increasingly pivotal role in directing the clinical care of cancer patients. Comprehensive screening of tumors by DNA sequencing and the ability to mine and interpret these large data sets from well-organized tissue banks have defined molecular subtypes of cancer. Such stratification by genomic criteria has revolutionized our perspectives on cancer diagnosis and treatment, offering insight into prognosis, progression, and susceptibility or resistance to known therapeutic agents. In turn, this has enabled clinicians to offer treatments tailored to patients that can greatly improve their chances of survival. Unique challenges and opportunities accompany the rapidly evolving interplay between tissue banking and genomic sequencing, and are the driving forces underlying the revolution in precision medicine. Molecular testing and precision medicine clinical trials are now becoming the major thrust behind the cooperative groups' clinical research efforts.

摘要

个性化肿瘤学,或者更确切地说是精准肿瘤基因组学,是指识别并实施针对个体患者癌症基因组信息定制的临床可操作靶点。人体组织和其他生物样本库建立了一个框架,用于提取和收集对我们理解疾病发病机制和治疗至关重要的数据。美国的癌症协作组在建立强大的生物样本收集机制以促进转化研究方面发挥了引领作用,并且与分子检测技术的进步相结合,组织样本库已从其在学术研究中的传统基础扩展而来,并在指导癌症患者的临床护理中发挥着越来越关键的作用。通过DNA测序对肿瘤进行全面筛查以及从组织有序的样本库中挖掘和解读这些大数据集的能力,已经明确了癌症的分子亚型。这种基于基因组标准的分层改变了我们对癌症诊断和治疗的看法,为预后、进展以及对已知治疗药物的敏感性或耐药性提供了见解。反过来,这使临床医生能够为患者提供量身定制的治疗,从而大大提高他们的生存几率。组织样本库与基因组测序之间迅速发展的相互作用伴随着独特的挑战和机遇,并且是精准医学革命背后的驱动力。分子检测和精准医学临床试验现在正成为协作组临床研究工作的主要重点。

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