Gorji Leva, Albrecht Peter
Department of Surgery, Kettering Health Dayton, Dayton, OH 45405, United States.
World J Gastroenterol. 2023 Feb 28;29(8):1304-1314. doi: 10.3748/wjg.v29.i8.1304.
Hereditary polyposis syndrome can be divided into three categories: Ade-nomatous, serrated, and hamartomatous polyps. Hamartomatous polyps, malformations of normal tissue presenting in a disorganized manner, are characterized by an autosomal dominant inheritance pattern. These syndromes exhibit hamartomatous gastrointestinal polyps in conjunction to extra-intestinal manifestations, which require conscientious and diligent monitoring. Peutz-Jeghers syndrome, Cowden syndrome, and juvenile polyposis syndrome are the most common displays of hamartomatous polyposis syndrome (HPS). Diagnosis can be pursued with molecular testing and endoscopic sampling. Early identification of these autosomal dominant pathologies allows to optimize malignancy sur-veillance, which helps reduce morbidity and mortality in both the affected patient population as well as at-risk family members. Endoscopic surveillance is an important pillar of prognosis and monitoring, with many patients eventually requiring surgical intervention. In this review, we discuss the diagnosis, surveillance, and management of HPS.
腺瘤性、锯齿状和错构瘤性息肉。错构瘤性息肉是正常组织的畸形,以杂乱无章的方式呈现,其特征为常染色体显性遗传模式。这些综合征表现为错构瘤性胃肠道息肉并伴有肠外表现,需要认真且勤勉的监测。黑斑息肉综合征、考登综合征和幼年性息肉病综合征是错构瘤性息肉病综合征(HPS)最常见的表现形式。可通过分子检测和内镜取样进行诊断。尽早识别这些常染色体显性疾病有助于优化恶性肿瘤监测,这有助于降低受影响患者群体以及高危家庭成员的发病率和死亡率。内镜监测是预后和监测的重要支柱,许多患者最终需要手术干预。在本综述中,我们讨论了HPS的诊断、监测和管理。