Department of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland.
Faculty of Biological and Environmental Sciences, University of Helsinki, Helsinki, Finland.
Gastroenterology. 2023 Apr;164(5):783-799. doi: 10.1053/j.gastro.2022.08.058. Epub 2023 Jan 24.
Lynch syndrome (LS) is one of the most prevalent hereditary cancer syndromes in humans and accounts for some 3% of unselected patients with colorectal or endometrial cancer and 10%-15% of those with DNA mismatch repair-deficient tumors. Previous studies have established the genetic basis of LS predisposition, but there have been significant advances recently in the understanding of the molecular pathogenesis of LS tumors, which has important implications in clinical management. At the same time, immunotherapy has revolutionized the treatment of advanced cancers with DNA mismatch repair defects. We aim to review the recent progress in the LS field and discuss how the accumulating epidemiologic, clinical, and molecular information has contributed to a more accurate and complete picture of LS, resulting in genotype- and immunologic subtype-specific strategies for surveillance, cancer prevention, and treatment.
林奇综合征（LS）是人类最常见的遗传性癌症综合征之一，占非选择性结直肠癌或子宫内膜癌患者的 3%左右，占 DNA 错配修复缺陷肿瘤患者的 10%-15%。先前的研究已经确定了 LS 易感性的遗传基础，但最近在 LS 肿瘤的分子发病机制方面取得了重大进展，这对临床管理具有重要意义。与此同时，免疫疗法彻底改变了 DNA 错配修复缺陷的晚期癌症的治疗。我们旨在回顾 LS 领域的最新进展，并讨论积累的流行病学、临床和分子信息如何有助于更准确、更完整地了解 LS，从而导致针对监测、癌症预防和治疗的基于基因型和免疫亚型的策略。
