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林奇综合征的妇科见解——癌症筛查与预防综述

Gynecological Insights into Lynch Syndrome-A Comprehensive Review of Cancer Screening and Prevention.

作者信息

Chitoran Elena, Bohiltea Roxana-Elena, Rotaru Vlad, Durdu Cristiana-Elena, Mitroiu Madalina-Nicoleta, Simion Laurentiu

机构信息

Medicine School, "Carol Davila" University of Medicine and Pharmacy, 050474 Bucharest, Romania.

General Surgery and Surgical Oncology Department I, Bucharest Institute of Oncology "Prof. Dr. Al. Trestioreanu", 022328 Bucharest, Romania.

出版信息

Medicina (Kaunas). 2024 Dec 6;60(12):2013. doi: 10.3390/medicina60122013.

Abstract

Lynch syndrome, one of the most common genetic syndromes predisposing to cancer, is associated with a series of malignant conditions, among which the most frequent is colorectal cancer, but gynecologic cancers (especially endometrial) are also quite common. Despite the significant progress made in understanding this condition over time, there are still aspects in managing this condition that have not demonstrated clear benefits. This article aims to summarize the recommendations of international societies and present the latest developments in managing Lynch syndrome, focusing on gynecologic cancer screening and possible prevention strategies. Advances in genetic testing procedures and discoveries related to the association between oncological pathology frequency and the affected pathogenic variant type will probably lead to personalized medicine focused on the individual patient in the coming years. Although various screening methods for gynecological cancers in patients with Lynch syndrome have been used over time, they have not shown significant survival benefits. This highlights the need for studying and implementing new screening and diagnostic methods, which have been under investigation in recent years and are mentioned in this article.

摘要

林奇综合征是最常见的易患癌症的遗传综合征之一,与一系列恶性疾病相关,其中最常见的是结直肠癌,但妇科癌症(尤其是子宫内膜癌)也相当常见。尽管随着时间的推移,在了解这种疾病方面取得了重大进展,但在管理这种疾病方面仍有一些方面尚未显示出明显的益处。本文旨在总结国际社会的建议,并介绍林奇综合征管理方面的最新进展,重点是妇科癌症筛查和可能的预防策略。基因检测程序的进展以及与肿瘤病理频率和受影响的致病变异类型之间关联的发现,可能会在未来几年导致针对个体患者的个性化医疗。尽管随着时间的推移,林奇综合征患者使用了各种妇科癌症筛查方法,但它们并未显示出显著的生存益处。这凸显了研究和实施新的筛查和诊断方法的必要性,这些方法近年来一直在研究中,并在本文中有所提及。

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