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[癌症综合基因组分析的现状与展望]

[Current Status and Prospects of the Comprehensive Cancer Genome Profiling].

作者信息

Imoto Issei, Fukue Misaki, Takaiso Nobue

机构信息

Risk Assessment Center, Aichi Cancer Center Hospital.

出版信息

Gan To Kagaku Ryoho. 2021 Jan;48(1):7-11.

Abstract

In June 2019, 2 comprehensive cancer genome profiling(CGP)tests were approved with reimbursement, and are now available at designated hospitals stratified to 3 layers on the basis of their roles. The reimbursement-approved CGP tests were restricted to patients with solid tumors that have progressed on standard chemotherapy, rare tumors, or tumors of unknown primary, and perform primary structure analysis of cancer genome on several hundred genes at a time using next generation sequencer. In tumor molecular board, appropriate treatments were recommended based on the interpretation made for results of CGP. Because 2 CGP tests differ functionally in terms of the sample requirements, the target gene sets, and items to be reported, results need to be evaluated carefully. Although the detection rate of genomic alterations in CGP tests is high, the number of cases lead to treatments consistent with genomic alterations is limited. Improving this ratio will be the key for Japanese precision oncology to meet the full potential of the CGP tests.

摘要

2019年6月,两项综合癌症基因组分析(CGP)检测获得医保报销批准,目前在根据其功能分层为三层的指定医院均可进行。医保报销批准的CGP检测仅限于那些在标准化疗后病情进展的实体瘤患者、罕见肿瘤患者或原发灶不明的肿瘤患者,并使用下一代测序仪一次性对数百个基因进行癌症基因组的一级结构分析。在肿瘤分子委员会中,根据对CGP检测结果的解读推荐合适的治疗方法。由于两项CGP检测在样本要求、目标基因集和报告项目方面功能不同,因此需要仔细评估结果。尽管CGP检测中基因组改变的检出率很高,但导致与基因组改变相一致的治疗的病例数量有限。提高这一比例将是日本精准肿瘤学充分发挥CGP检测潜力的关键。

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