Envoi Specialist Pathologists, Brisbane, Queensland 4059, Australia; University of Queensland, Brisbane, Queensland 4072, Australia; Department of Clinical Pathology, Colorectal Oncogenomics Group, Victorian Comprehensive Cancer Centre, The University of Melbourne, Victoria 3051, Australia.
Department of Pathology University Medical Center Utrecht, Utrecht University, Postbus 85500, 3508, Utrecht, Galgenwaad, The Netherlands.
Gastroenterol Clin North Am. 2024 Mar;53(1):179-200. doi: 10.1016/j.gtc.2023.09.006. Epub 2023 Oct 20.
Gastrointestinal polyposis disorders are a group of syndromes defined by clinicopathologic features that include the predominant histologic type of colorectal polyp and specific inherited gene mutations. Adenomatous polyposis syndromes comprise the prototypical familial adenomatous polyposis syndrome and other recently identified genetic conditions inherited in a dominant or recessive manner. Serrated polyposis syndrome is defined by arbitrary clinical criteria. The diagnosis of hamartomatous polyposis syndromes can be suggested from the histologic characteristics of colorectal polyps and the association with various extraintestinal manifestations. Proper identification of affected individuals is important due to an increased risk of gastrointestinal and extragastrointestinal cancers.
胃肠道息肉病是一组以临床病理特征定义的综合征,包括结直肠息肉的主要组织学类型和特定的遗传性基因突变。腺瘤性息肉病综合征包括典型的家族性腺瘤性息肉病和其他最近以显性或隐性方式遗传的遗传疾病。锯齿状息肉病综合征则由任意的临床标准定义。从结直肠息肉的组织学特征和与各种肠外表现的关联,可以提示错构瘤性息肉病综合征的诊断。由于胃肠道和肠外癌症的风险增加,因此正确识别受影响的个体非常重要。