[临床生物银行:支持日本癌症临床测序的新系统]。

Hiroshi Nishihara
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引用次数: 0

摘要

基因组医学的发展使我们能够进行当代临床测序,而高质量生物标本的获取和这些材料的适当处理是必不可少的。2014年,我们启动了临床生物银行(Clinical Biobank),这是一个新型的按需银行系统。从2014年8月开始的22个月里,我们储存了1700名患者的约6000份生物标本,其中大部分是用于各种临床研究。从PFPE样品中提取的DNA和RNA的质量和数量明显较高;因此,这些样品足以使用MiSeq (Illumina)进行靶向扩增子测序。此外,我们最近建立了临床癌症遗传学部门,用于个性化癌症医学。我们使用PAXgene tissue系统获得包括血液和组织在内的生物标本,并使用MiSeq立即分析样品以进行靶向扩增子测序。其余的样品在经过适当的程序后储存在-80度的冷冻室中。我们从pax固定石蜡包埋样品中获得高质量和足够数量的DNA和RNA,用于病理评估后的临床测序。在三个月的时间里,我们检查了40名癌症患者,并进行了靶向外显子组测序。结果,可操作和可药物基因突变的检出率分别约为85%和50%。我们还在日本建立了临床生物库研究组,与几所大学和癌症中心合作。我们相信,这一新的生物标本库系统将有助于有效地建立整个日本的癌症临床测序。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
[Clinical Biobank: A Novel System to Support Cancer Clinical Sequencing in Japan].

The development of genomic medicine has enabled us to perform contemporary clinical sequencing, while the acquisition of high-quality biospecimens and the appropriate handling of these materials are indispensable. We started Clinical Biobank, a novel system for on-demand-type banking, in 2014. During the 22 months from August 2014, we stored around 6,000 biospecimens from 1,700 patients, and most of them were obtained for diverse clinical research. The quality and amount of extracted DNA and RNA from PFPE samples were markedly high; thus, these samples are adequate for targeted amplicon sequencing using MiSeq (Illumina). In addition, we recently established the Division of Clinical Cancer Genetics for personalized cancer medicine. We obtain biospecimens including blood and tissue fixed using the PAXgene Tissue system, and the samples are immediately analyzed for targeted amplicon sequencing using MiSeq. The rest of the samples are stored after adequate procedures in a -80 degree freezer. We obtain DNA and RNA from PAX-fixed paraffin- embedded samples with a high quality and sufficient amounts for clinical sequencing after pathological evalua- tion. For three months, we examined 40 cancer patients and performed targeted exome sequencing. As a result, detection rates of actionable and druggable gene mutations were around 85 and 50%, respectively. We have also established the Clinical Biobank Study Group in Japan, collaborating with several universities and cancer centers. We believe that this novel biospecimen repository system will help to effectively estab- lish cancer clinical sequencing throughout Japan.

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