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用于检测血液系统恶性肿瘤全基因组变化的 SNP 微阵列的临床应用。

Clinical use of SNP-microarrays for the detection of genome-wide changes in haematological malignancies.

机构信息

Department of Haematology, Calvary Mater Hospital, Newcastle, New South Wales, Australia; School of Biomedical Sciences and Pharmacy, University of Newcastle, New South Wales, Australia; Department of Molecular Medicine, NSW Health Pathology, Newcastle, New South Wales, Australia.

School of Biomedical Sciences and Pharmacy, University of Newcastle, New South Wales, Australia; Department of Molecular Medicine, NSW Health Pathology, Newcastle, New South Wales, Australia.

出版信息

Crit Rev Oncol Hematol. 2019 Oct;142:58-67. doi: 10.1016/j.critrevonc.2019.07.016. Epub 2019 Jul 27.

Abstract

Single nucleotide polymorphism (SNP) microarrays are commonly used for the clinical investigation of constitutional genomic disorders; however, their adoption for investigating somatic changes is being recognised. With increasing importance being placed on defining the cancer genome, a shift in technology is imperative at a clinical level. Microarray platforms have the potential to become frontline testing, replacing or complementing standard investigations such as FISH or karyotype. This 'molecular karyotype approach' exemplified by SNP-microarrays has distinct advantages in the investigation of several haematological malignancies. A growing body of literature, including guidelines, has shown support for the use of SNP-microarrays in the clinical laboratory to aid in a more accurate definition of the cancer genome. Understanding the benefits of this technology along with discussing the barriers to its implementation is necessary for the development and incorporation of SNP-microarrays in a clinical laboratory for the investigation of haematological malignancies.

摘要

单核苷酸多态性 (SNP) 微阵列常用于临床研究遗传性基因组疾病;然而,它们也开始被用于研究体细胞变化。随着癌症基因组定义的重要性不断增加,临床层面上技术的转变势在必行。微阵列平台有可能成为一线检测手段,替代或补充 FISH 或核型等标准检测方法。SNP 微阵列这种“分子核型方法”在几种血液系统恶性肿瘤的研究中具有明显的优势。越来越多的文献,包括指南,都支持在临床实验室中使用 SNP 微阵列来帮助更准确地定义癌症基因组。为了在临床实验室中开发和应用 SNP 微阵列来研究血液系统恶性肿瘤,了解这项技术的优势,讨论其实施的障碍是必要的。

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