肿瘤基因突变检测方法及标准物质的研究进展

Progress in Tumor Gene Mutation Detection Methods and Development of Reference Materials

恶性肿瘤是导致全球居民死亡的主要原因之一,严重危害全球人类健康。我国恶性肿瘤发病呈上升趋势,面临的肿瘤防控形势严峻。肿瘤突变基因检测技术为恶性肿瘤的筛查与早诊早治提供科学依据,有力提高癌症生存率。我国批准注册的各种肿瘤突变基因检测试剂盒为癌症防控提供了重要保障,而核酸标准物质为保证检测结果的准确性和溯源性提供了计量依据。介绍了肿瘤突变基因的常见检测方法,梳理了国内有证检测试剂盒情况,分析了国内外不同形式的核酸标准物质的研究现状,以期为肿瘤突变基因标准物质的研制和使用提供参考,促进核酸标准物质在精准医学检测中的应用。

Malignant tumors represent a major cause of global mortality,posing a significant threat to human health.In China,the incidence of malignant tumors is increasing,creating a challenging situation for cancer prevention and control.Tumor mutation gene detection technologies offer a scientific foundation for early screening,diagnosis,and treatment,thereby significantly improving cancer survival rates.In China,various approved tumor mutation gene detection kits provide critical support for cancer control efforts.Nucleic acid reference materials play a vital role in ensuring the accuracy and traceability of test results.This paper discusses common methods for detecting tumor gene mutations,reviews certified detection kits available in China,and analyzes the current status of nucleic acid reference materials,both domestically and internationally.The aim is to inform the development and use of reference materials for tumor gene mutations and to promote their application in precision medicine diagnostics.