| 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 |
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| 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: |
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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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