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林奇综合征患者妇科护理的最新进展。

Updates in gynecologic care for individuals with lynch syndrome.

作者信息

Underkofler Kaylee A, Ring Kari L

机构信息

Department of Obstetrics and Gynecology, Division of Gynecologic Oncology, University of Virginia, Charlottesville, VA, United States.

出版信息

Front Oncol. 2023 Mar 1;13:1127683. doi: 10.3389/fonc.2023.1127683. eCollection 2023.

Abstract

Lynch syndrome is an autosomal dominant hereditary cancer syndrome caused by germline pathogenic variants (PVs) in DNA mismatch repair genes (, , , ) or the gene. It is estimated to affect 1 in 300 individuals and confers a lifetime risk of cancer of 10-90%, depending on the specific variant and type of cancer. Lynch syndrome is the most common cause of inherited colorectal cancer, but for women, endometrial cancer is more likely to be the sentinel cancer. There is also evidence that certain PVs causing Lynch syndrome confer an increased risk of ovarian cancer, while the risk of ovarian cancer in others is not well defined. Given this, it is essential for the practicing gynecologist and gynecologic oncologist to remain up to date on the latest techniques in identification and diagnosis of individuals with Lynch syndrome as well as evidence-based screening and risk reduction recommendations for those impacted. Furthermore, as the landscape of gynecologic cancer treatment shifts towards treatment based on molecular classification of tumors, knowledge of targeted therapies well-suited for mismatch repair deficient Lynch tumors will be crucial. The objective of this review is to highlight recent updates in the literature regarding identification and management of individuals with Lynch syndrome as it pertains to endometrial and ovarian cancers to allow gynecologic providers the opportunity to both prevent and identify Lynch-associated cancers earlier, thereby reducing the morbidity and mortality of the syndrome.

摘要

林奇综合征是一种常染色体显性遗传性癌症综合征,由DNA错配修复基因(、、、)或基因中的种系致病性变异(PVs)引起。据估计,每300人中就有1人受其影响,根据具体变异和癌症类型,终生患癌风险为10%-90%。林奇综合征是遗传性结直肠癌最常见的病因,但对于女性来说,子宫内膜癌更有可能是首发癌症。也有证据表明,某些导致林奇综合征的PVs会增加卵巢癌风险,而其他一些PVs导致卵巢癌的风险尚不明确。鉴于此,执业妇科医生和妇科肿瘤学家必须及时了解林奇综合征患者识别和诊断的最新技术,以及针对受影响者的循证筛查和风险降低建议。此外,随着妇科癌症治疗格局向基于肿瘤分子分类的治疗转变,了解适合错配修复缺陷型林奇肿瘤的靶向治疗知识至关重要。本综述的目的是强调文献中关于林奇综合征患者子宫内膜癌和卵巢癌识别与管理的最新进展,使妇科医疗人员有机会更早地预防和识别与林奇综合征相关的癌症,从而降低该综合征的发病率和死亡率。

相似文献

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Updates in gynecologic care for individuals with lynch syndrome.林奇综合征患者妇科护理的最新进展。
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Recent advances in Lynch syndrome.林奇综合征的最新进展
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J Natl Compr Canc Netw. 2022 Sep;20(9):972-980. doi: 10.6004/jnccn.2022.0047.

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