诊断学理论与实践2023，Vol.22Issue(4)：393-401,9.DOI:10.16150/j.1671-2870.2023.04.011
DNA甲基化检测助力肿瘤早期筛查和诊断
DNA methylation detection assists early screening and diagnosis of tumors
摘要
Abstract
DNA methylation is one of the most widely used indicator for early cancer screening.Under the influence of carcinogens,hypermethylation of the promoter region of tumor suppressor genes may lead to downrcgulation or silencing of gene expression,thereby activating the expression of proto-oncogenes and promoting tumorigenesis.The samples used for DNA methylation detection are mainly exfoliated cells,blood samples and paraffin-embedded tissues.Commonly used de-tection methods include:methylation-specific polymerase chain reaction(MSP),nucleic acid mass spectrometry,methyla-tion chip,bisulfite sequencing,next-generation sequencing,etc.Compared with mutation detection,the advantages of DNA methylation detection are that it has higher tumor specificity,more detectable sites,higher signal quality,and can achieve tissue traceability.Currently,it is mainly used clinically for medication guidance for brain glioma,aid in diagnosis and high-risk triage for lung cancer,high-risk triage and recurrence monitoring for bladder cancer,high-risk triage for cervical can-cer,and early screening and recurrence monitoring for colorectal cancer and gastric cancer.Before large-scale clinical rou-tine application,accurately positioning of the application scenarios for DNA methylation detection must be considered.For well-tolerated endoscopy,the rigid need of DNA methylation detection for high-risk triage may be reduced.DNA methyla-tion detection plays an important role in assisting in the diagnosis of tumors with low pathological diagnosis sensitivity,tu-mor monitoring and prognosis assessment.With the standardization of testing procedures and quality management,DNA methylation detection will be more widely used to improve the early screening and diagnostic sensitivity of tumors.关键词
甲基化/恶性肿瘤/肿瘤筛查/早期诊断Key words
Methylation/Malignant tumors/Cancer screening/Early diagnosis分类
医药卫生引用本文复制引用
刘益飞..DNA甲基化检测助力肿瘤早期筛查和诊断[J].诊断学理论与实践,2023,22(4):393-401,9.基金项目
国家自然科学基金面上项目(82273422) （82273422）
上海浦东新区科技发展基金资助(PKX2021-S09) （PKX2021-S09）
