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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.

DOI:10.1016/j.bpg.2022.101790
PMID:35988964
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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1
Lynch syndrome; towards more personalized management?林奇综合征;向更个体化的管理迈进?
Best Pract Res Clin Gastroenterol. 2022 Jun-Aug;58-59:101790. doi: 10.1016/j.bpg.2022.101790. Epub 2022 Mar 26.
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The gynecological surveillance of women with Lynch syndrome in Sweden.瑞典林奇综合征女性的妇科监测
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Prophylactic surgery to reduce the risk of gynecologic cancers in the Lynch syndrome.预防性手术以降低林奇综合征患者患妇科癌症的风险。
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Genetic counseling and cascade genetic testing in Lynch syndrome.林奇综合征的遗传咨询与级联基因检测
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Association of Mismatch Repair Mutation With Age at Cancer Onset in Lynch Syndrome: Implications for Stratified Surveillance Strategies.错配修复基因突变与林奇综合征发病年龄的关联:对分层监测策略的影响。
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Screening and risk reducing surgery for endometrial or ovarian cancers in Lynch syndrome: a systematic review.林奇综合征中子宫内膜癌或卵巢癌的筛查和降低风险手术:系统评价。
Int J Gynecol Cancer. 2022 May 3;32(5):646-655. doi: 10.1136/ijgc-2021-003132.
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[Lynch syndrome and gynaecologic's cancer: follow-up recommendations].[林奇综合征与妇科癌症:随访建议]
J Gynecol Obstet Biol Reprod (Paris). 2007 Feb;36(1):68-71. doi: 10.1016/j.jgyn.2006.09.005. Epub 2007 Jan 9.
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Follow-up recommendations and risk-reduction initiatives for Lynch syndrome.林奇综合征的随访建议和降低风险举措。
Expert Rev Anticancer Ther. 2012 Oct;12(10):1359-67. doi: 10.1586/era.12.114.
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Endometrial and ovarian cancer in women with Lynch syndrome: update in screening and prevention.林奇综合征女性的子宫内膜癌和卵巢癌:筛查和预防的最新进展。
Fam Cancer. 2013 Jun;12(2):273-7. doi: 10.1007/s10689-013-9664-5.
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Asymptomatic endometrial cancer with Lynch syndrome; in a woman with primary infertility-A case report and literature review.林奇综合征相关无症状子宫内膜癌;一例原发性不孕女性病例报告及文献复习
Int J Gynaecol Obstet. 2024 Oct;167(1):58-61. doi: 10.1002/ijgo.15578. Epub 2024 May 2.

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Risk Factors for Gastric Cancer in Patients with Lynch Syndrome: A Systematic Review and Meta-analysis.林奇综合征患者胃癌的危险因素:一项系统评价与Meta分析
Ann Surg Oncol. 2025 Jun 21. doi: 10.1245/s10434-025-17664-4.
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Lynch Syndrome-Impact of the Type of Deficient Mismatch Repair Gene Mutation on Diagnosis, Clinical Presentation, Surveillance and Therapeutic Approaches.
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Gut microbiota and endometrial cancer: research progress on the pathogenesis and application.肠道微生物群与子宫内膜癌:发病机制及应用的研究进展
Ann Med. 2025 Dec;57(1):2451766. doi: 10.1080/07853890.2025.2451766. Epub 2025 Jan 15.
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Breast cancer and rectal cancer associated with Lynch syndrome: A case report.与林奇综合征相关的乳腺癌和直肠癌:一例报告。
World J Clin Oncol. 2024 Sep 24;15(9):1215-1221. doi: 10.5306/wjco.v15.i9.1215.
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Effect of genetic profiling on surgical decisions at hereditary colorectal cancer syndromes.基因谱分析对遗传性结直肠癌综合征手术决策的影响。
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