{"title":"[林奇综合征]","authors":"Verena Steinke-Lange, Elke Holinski-Feder","doi":"10.1007/s00292-024-01339-0","DOIUrl":null,"url":null,"abstract":"<p><p>Patients with Lynch syndrome, one of the most common hereditary tumor predisposition syndromes, harbor an increased risk for a broad spectrum of especially gastrointestinal and gynecological tumors. Causative for the syndrome are variants in DNA mismatch repair genes, which are passed on to the offspring at a 50% chance (autosomal dominant inheritance). The tumor tissue of these patients usually shows microsatellite instability, which is of increasing relevance regarding prognosis and therapeutic decisions. The detection of a causative genetic variant in a patient enables predictive testing of family members to provide relief to noncarriers and provide carriers with intensified risk-adapted surveillance. In addition, chemoprevention with aspirin (acetylsalicylic acid) has been proven useful for chemoprevention in studies. Therefore, the diagnosis of Lynch syndrome is important for patients and their relatives.</p>","PeriodicalId":74402,"journal":{"name":"Pathologie (Heidelberg, Germany)","volume":" ","pages":"290-299"},"PeriodicalIF":0.0000,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"[Lynch syndrome].\",\"authors\":\"Verena Steinke-Lange, Elke Holinski-Feder\",\"doi\":\"10.1007/s00292-024-01339-0\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Patients with Lynch syndrome, one of the most common hereditary tumor predisposition syndromes, harbor an increased risk for a broad spectrum of especially gastrointestinal and gynecological tumors. Causative for the syndrome are variants in DNA mismatch repair genes, which are passed on to the offspring at a 50% chance (autosomal dominant inheritance). The tumor tissue of these patients usually shows microsatellite instability, which is of increasing relevance regarding prognosis and therapeutic decisions. The detection of a causative genetic variant in a patient enables predictive testing of family members to provide relief to noncarriers and provide carriers with intensified risk-adapted surveillance. In addition, chemoprevention with aspirin (acetylsalicylic acid) has been proven useful for chemoprevention in studies. Therefore, the diagnosis of Lynch syndrome is important for patients and their relatives.</p>\",\"PeriodicalId\":74402,\"journal\":{\"name\":\"Pathologie (Heidelberg, Germany)\",\"volume\":\" \",\"pages\":\"290-299\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2024-07-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Pathologie (Heidelberg, Germany)\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1007/s00292-024-01339-0\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/6/12 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Pathologie (Heidelberg, Germany)","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1007/s00292-024-01339-0","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/6/12 0:00:00","PubModel":"Epub","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0
摘要
林奇综合征是最常见的遗传性肿瘤易感综合征之一,患者罹患各种肿瘤,尤其是胃肠道肿瘤和妇科肿瘤的风险增加。导致该综合征的原因是 DNA 错配修复基因的变异,这种变异遗传给后代的几率为 50%(常染色体显性遗传)。这些患者的肿瘤组织通常显示出微卫星不稳定性,这与预后和治疗决策的关系越来越密切。检测出患者的致病基因变异后,就可以对家族成员进行预测性检测,为非携带者提供帮助,并对携带者加强风险监测。此外,使用阿司匹林(乙酰水杨酸)进行化学预防已在研究中被证明是有用的。因此,林奇综合征的诊断对患者及其亲属非常重要。
Patients with Lynch syndrome, one of the most common hereditary tumor predisposition syndromes, harbor an increased risk for a broad spectrum of especially gastrointestinal and gynecological tumors. Causative for the syndrome are variants in DNA mismatch repair genes, which are passed on to the offspring at a 50% chance (autosomal dominant inheritance). The tumor tissue of these patients usually shows microsatellite instability, which is of increasing relevance regarding prognosis and therapeutic decisions. The detection of a causative genetic variant in a patient enables predictive testing of family members to provide relief to noncarriers and provide carriers with intensified risk-adapted surveillance. In addition, chemoprevention with aspirin (acetylsalicylic acid) has been proven useful for chemoprevention in studies. Therefore, the diagnosis of Lynch syndrome is important for patients and their relatives.