Plevová Pavlína
Klin Onkol. 2019 Summer;32(Supplementum2):97-108. doi: 10.14735/amko2019S97.
It is estimated that 5-10% of colorectal cancers arise due to a known genetic syndrome. Individuals with these cancer syndromes are also at risk of extracolonic cancers. Polyposis and nonpolyposis hereditary syndromes are generally recognized. Inclusion of next-generation sequencing technology, especially multiple-gene panel testing, in routine laboratory practice has made identifying the causes of these diseases significantly easier.
To summarize current knowledge of the causes, clinical manifestations, diagnostic criteria, and recommendations for presymptomatic screening of individuals at risk of hereditary gastrointestinal polyposis and colorectal cancer syndromes. We dicuss currently defined syndromes detected by multiple-gene panel next-generation sequencing; these include constitutional mismatch repair deficiency (biallelic MLH1, MSH2, MSH6, PMS2 gene mutations), gastric adenocarcinoma and proximal polyposis of the stomach (APC gene), NTHL1-associated polyposis, polymerase proofreading-associated polyposis (POLD1, POLE genes), juvenile polyposis (SMAD4, BMPR1A genes), and serrated polyposis syndromes. Another aim is to summarize recent knowledge about well-known syndromes, including hereditary nonpolyposis colon cancer (Lynch syndrome), familial adenomatous polyposis, MUTYH-associated polyposis, and Peutz-Jeghers and Cowden/PTEN hamartoma tumor syndromes.
Awareness of hereditary polyposis/colon cancer syndromes enables early diagnosis and prevention of cancer in affected individuals and their relatives. Genetic counseling, presymptomatic testing of at-risk individuals, and efficient screening may be beneficial for affected families. Thank to Lenka Foretová, M.D., PhD, (Masaryk Memorial Cancer Institute, Brno) for a critical review of the manuscript and valuable advices. The author declares she has no potential conflicts of interest concerning drugs, products, or services used in the study. The Editorial Board declares that the manuscript met the ICMJE recommendation for biomedical papers. Submitted: 1. 3. 2019 Accepted: 6. 6. 2019.
据估计，5%至10%的结直肠癌由已知的遗传综合征引起。患有这些癌症综合征的个体也有患结肠外癌症的风险。息肉病和非息肉病遗传性综合征已得到普遍认可。在常规实验室实践中纳入下一代测序技术，尤其是多基因panel检测，使得识别这些疾病的病因显著更容易。
总结遗传性胃肠道息肉病和结直肠癌综合征高危个体的病因、临床表现、诊断标准及症状前筛查建议的当前知识。我们讨论通过多基因panel下一代测序检测到的当前定义的综合征；这些包括遗传性错配修复缺陷（双等位基因MLH1、MSH2、MSH6、PMS2基因突变）、胃腺癌和胃近端息肉病（APC基因）、NTHL1相关息肉病、聚合酶校对相关息肉病（POLD1、POLE基因）、幼年性息肉病（SMAD4、BMPR1A基因）和锯齿状息肉病综合征。另一个目的是总结关于知名综合征的最新知识，包括遗传性非息肉病性结肠癌（林奇综合征）、家族性腺瘤性息肉病、MUTYH相关息肉病以及黑斑息肉病和考登/PTEN错构瘤肿瘤综合征。
认识遗传性息肉病/结肠癌综合征有助于对受影响个体及其亲属进行癌症的早期诊断和预防。遗传咨询、对高危个体进行症状前检测以及有效的筛查可能对受影响的家庭有益。感谢Lenka Foretová医学博士、哲学博士（布尔诺马萨里克纪念癌症研究所）对手稿的严格审查和宝贵建议。作者声明她在研究中使用的药物、产品或服务方面没有潜在的利益冲突。编辑委员会声明该手稿符合ICMJE关于生物医学论文的建议。提交日期：2019年3月1日 接受日期：2019年6月6日
