Lynch综合征临床研究进展

周永明; 李文亮

Lynch综合征临床研究进展

昆明医科大学第一附属医院肿瘤科

基金项目:

基金：国家自然科学基金资助项目 (31660312);

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出版历程
- 收稿日期: 2017-11-19

The Progress in the Clinical Research of Lynch Syndrome

Funds:

基金：国家自然科学基金资助项目 (31660312);

摘要

摘要: 林奇综合征 (lynch syndrome, LS) 是最常见的遗传性结直肠癌综合征, 由错配修复 (mismatch repair, MMR) 系统缺陷所致的一种常染色体显性遗传性疾病.临床医师由于对该疾病的认识不足及检测过程复杂导致漏诊率较高.掌握LS遗传学的知识和诊断测试的方法, 对LS高危患者的识别和正确的诊断是成功筛查、实施外科手术决策和化学预防的关键, 对减少癌症发生和死亡具有重要意义.对LS临床特征、分子遗传学基础、诊断标准与方法、监测、管理与治疗和LS其他相关类型的新进展作简要论述.
- 结直肠癌 /
- 林奇综合症 /
- 错配修复基因 /
- 免疫组织化学 /
- 微卫星不稳定
Abstract: Lynch syndrome (LS) is the most common hereditary colorectal cancer syndrome, an autosomal dominant inherited disease which is caused by mismatch repair system defect. Learning knowledge in the genetics and diagnosis of LS, and identifying at-risk patients and making a correct diagnosis are the keys to successful screening and surgical decision-making and chemoprevention which is important to decrease formation of and death from cancers. This article reviews recent developments in mainly the clinical features, genetics, current diagnostic standard and diagnosis, surveillance, management, treatment and other related syndromes of LS.
- Colorectal cancer /
- Lynch syndrome /
- Mismatch repair gene /
- Immunohistochemistry /
- Microsatellite instability

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参考文献(39)

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