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林奇综合征;向更个体化的管理迈进?

Lynch syndrome; towards more personalized management?

机构信息

Department of Gastroenterology, Hospital Clínic de Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBEREHD), University of Barcelona, Barcelona, Spain.

Department of Gastroenterology, Hospital Clínic de Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBEREHD), University of Barcelona, Barcelona, Spain.

出版信息

Best Pract Res Clin Gastroenterol. 2022 Jun-Aug;58-59:101790. doi: 10.1016/j.bpg.2022.101790. Epub 2022 Mar 26.

Abstract

Lynch syndrome is the most common inherited cause of colorectal (lifetime risk up to 70%) and endometrial cancer. The diagnosis of Lynch syndrome facilitates preventive measures aimed at reducing the incidence and mortality of cancer. Colonoscopic surveillance for colorectal cancer, aspirin, and prophylactic hysterectomy and bilateral salpo-oopherectomy for endometrial and/or ovarian cancer have demonstrated to effectively reduce cancer mortality in this population. However, the lifetime risk of each cancer in people with Lynch syndrome is gene-specific and may be modified by environmental factors. Furthermore, the benefits of surveillance strategies need to be balanced against the risk of over-diagnosis and be supported by evidence of improved outcomes from cancer diagnosis in surveillance. Therefore, people with Lynch syndrome may benefit from a personalized management approach.

摘要

林奇综合征是最常见的遗传性结直肠癌(终生风险高达 70%)和子宫内膜癌的病因。林奇综合征的诊断有助于采取预防措施,降低癌症的发病率和死亡率。结直肠镜筛查结直肠癌、阿司匹林、预防性子宫切除术和双侧输卵管卵巢切除术用于子宫内膜癌和/或卵巢癌,已被证明可有效降低该人群的癌症死亡率。然而,林奇综合征患者的每种癌症的终生风险具有基因特异性,并且可能受到环境因素的影响。此外,监测策略的益处需要与过度诊断的风险相平衡,并需要有证据表明监测可以改善癌症诊断的结果。因此,林奇综合征患者可能受益于个性化的管理方法。

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