方晨燕,张 平,张英丽.Lynch 综合征相关性子宫内膜癌的研究进展[J].肿瘤学杂志,2017,23(6):528-534.
Lynch 综合征相关性子宫内膜癌的研究进展
Research Progress of Lynch Syndrome-Associated Endometrial Cancer
投稿时间:2016-09-28  
DOI:10.11735/j.issn.1671-170X.2017.06.B014
中文关键词:  Lynch综合征  子宫内膜癌
英文关键词:Lynch syndrome  endometrial cancer
基金项目:
作者单位
方晨燕 浙江中医药大学第二临床学院 
张 平 浙江省肿瘤医院 
张英丽 浙江省肿瘤医院 
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中文摘要:
      摘 要:Lynch综合征相关性子宫内膜癌(LS-EC)与散发性子宫内膜癌不同,该病是常染色体显性遗传病,是由于DNA错配修复基因(MLH1、MSH2、MSH6 及PMS2)的突变或异常表达引起的。LS-EC再发肿瘤风险较高,及时诊断及治疗非常重要。近年来发达国家采用免疫组化、微卫星不稳定性和基因检测等相结合的分子诊断方法,大大提高了LS-EC的诊断率。全文针对LS-EC的遗传学改变、临床病理特点、筛查及诊断、预防、治疗进行了综述。
英文摘要:
      Abstract:Lynch syndrome is an autosomal dominant genetic disease caused by the abnormalities of DNA mismatch repair genes(MLH1,MSH2,MSH6 and PMS2),so the Lynch syndrome-associated endometrial cancer(LS-EC) is different from sporadic endometrial carcinoma. The risk of recurrence of the disease is higher,therefore the timely diagnosis and treatment of LS-EC is important. In recent years,the diagnosis of LS-EC has been greatly improved due to the application of new molecular diagnostic methods,including immunohistochemistry,microsatellite instability and gene detection. This article reviews the genetic changes,clinicopathological features,and screening,diagnosis,prevention,treatment of LS-EC.
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