The School of Medicine, The University of Queensland, Brisbane, Qld.
Genetic Epidemiology Laboratory, Department of Pathology, The University of Melbourne, Carlton, Vic., Australia.
Adv Anat Pathol. 2018 Jan;25(1):1-13. doi: 10.1097/PAP.0000000000000173.
Polyps of the gastrointestinal tract are very common lesions and most frequently sporadic in nature. Some polyp subtypes are associated with rare hereditary polyposis syndromes, including juvenile polyposis syndrome, Peutz-Jeghers syndrome, and Cowden syndrome. However, many sporadic benign lesions of the gastrointestinal tract can mimic some of these syndromic hamartomatous polyps. The role of the surgical pathologist is to raise the possibility of a hereditary condition in case of suggestive polyp histology and to look for clinical information to support the suspected diagnosis. In this review, the clinical presentation and the pathology associated with these rare hamartomatous polyposis syndromes are discussed in an attempt to provide pathologists clues in suggesting one such syndrome on the basis of histologic findings and clinical context. Identification of affected individuals is important because of the increased gastrointestinal and other malignancies. Recently, new adenomatous polyposis syndromes have been discovered, expanding the genetic causes of patient diagnosed with multiple colonic adenomas. By being aware of the clinical phenotype and the tumor spectrum associated with gastrointestinal polyposis syndromes, surgical pathologists can play a critical role in recommending genetic counseling when suspicious of such a diagnosis. This may lead to the identification of a genetic cause and appropriate surveillance of affected family members to screen for associated malignancies.
胃肠道息肉是非常常见的病变，大多数情况下是散发性的。一些息肉亚型与罕见的遗传性息肉综合征有关，包括青少年息肉综合征、Peutz-Jeghers 综合征和 Cowden 综合征。然而，许多胃肠道的散发性良性病变可能会模拟这些综合征性错构瘤性息肉中的一些。外科病理学家的作用是在提示息肉组织学存在遗传性疾病的情况下提出这种可能性，并寻找临床信息来支持可疑的诊断。在这篇综述中，讨论了这些罕见的错构瘤性息肉综合征的临床表现和病理学，试图为病理学家提供基于组织学发现和临床背景提示某种综合征的线索。识别受影响的个体非常重要，因为这些个体患胃肠道和其他恶性肿瘤的风险增加。最近，已经发现了新的腺瘤性息肉综合征，扩大了患者被诊断为多发性结肠腺瘤的遗传原因。外科病理学家通过了解与胃肠道息肉综合征相关的临床表型和肿瘤谱，可以在怀疑这种诊断时发挥关键作用，建议进行遗传咨询。这可能会确定遗传原因，并对受影响的家庭成员进行适当的监测，以筛查相关的恶性肿瘤。
