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癌症诊断和治疗中下一代测序的临床实践指南(第 1.0 版)。

Clinical practice guidance for next-generation sequencing in cancer diagnosis and treatment (Edition 1.0).

机构信息

Department of Pathology and Clinical Laboratories, National Cancer Center Hospital, Tokyo, Japan.

Department of Hepatobiliary and Pancreatic Oncology, National Cancer Center Hospital East, Kashiwa, Japan.

出版信息

Cancer Sci. 2018 Sep;109(9):2980-2985. doi: 10.1111/cas.13730.

DOI:10.1111/cas.13730
PMID:30187675
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6125473/
Abstract

In Japan, the social (medical) health-care system is on the way to being developed to advance personalized medicine through the implementation of cancer genomic medicine, known as "cancer clinical sequencing," which uses a next-generation sequencer. However, no Japanese guidance for cancer genomic testing exists. Gene panel testing can be carried out to help determine patient treatment, confirm diagnosis, and evaluate prognostic predictions of patients with mainly solid cancers for whom no standard treatment is available. This guidance describes how to utilize gene panel testing according to the type of cancer: childhood cancer, rare cancer, carcinoma of unknown primary, and other cancers. The level of evidence classification for unified use in Japan is also detailed. This guidance establishes the basic principles of the quality control of specimens, requirements of medical institutions, informed consent, handling of data during the postanalysis stage, and treatment options based on the evidence level. In Japan, gene panel testing for cancer treatment and diagnosis is recommended to comply with this guidance. This is a collaborative work of the Japanese Society of Medical Oncology, Japan Society of Clinical Oncology, and the Japanese Cancer Association.

摘要

在日本,通过实施癌症基因组医学(即使用下一代测序仪的“癌症临床测序”),社会(医疗)保健系统正在朝着推进个性化医学的方向发展。然而,日本尚未制定癌症基因组检测指南。基因面板检测可用于帮助确定主要为实体瘤的无标准治疗方案的患者的治疗方案、确认诊断和评估预后预测。本指南根据癌症类型描述了如何利用基因面板检测:儿童癌症、罕见癌症、原发灶不明的癌和其他癌症。还详细说明了在日本统一使用的证据分类级别。本指南确立了标本质量控制的基本原则、医疗机构的要求、知情同意、分析后阶段数据的处理以及基于证据水平的治疗选择。在日本,推荐癌症治疗和诊断的基因面板检测遵循本指南。这是日本肿瘤内科学会、日本临床肿瘤学会和日本癌症协会的合作工作。

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Standards and Guidelines for the Interpretation and Reporting of Sequence Variants in Cancer: A Joint Consensus Recommendation of the Association for Molecular Pathology, American Society of Clinical Oncology, and College of American Pathologists.癌症序列变异解读与报告的标准和指南:分子病理学协会、美国临床肿瘤学会和美国病理学家学会联合共识推荐
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