Department of Gastroenterology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, China.
J Dig Dis. 2021 Aug;22(8):444-451. doi: 10.1111/1751-2980.13029. Epub 2021 Jul 8.
Hamartomatous polyposis syndromes (HPS) are a heterogeneous spectrum of diseases that are characterized by diffuse hamartomatous polyps lining the gastrointestinal (GI) tract together with extra-GI manifestations. Classical HPS includes juvenile polyposis syndrome, Peutz-Jeghers syndrome, PTEN hamartoma tumor syndrome and hereditary mixed polyposis syndrome. Patients with HPS have a higher risk of GI and extra-GI malignancies than the general population, although the underlying mechanisms remain unclear and are obviously different from the carcinogenesis of classical adenocarcinoma and colitis-associated malignancy. In this review we aimed to clarify the risks, possible mechanism and endoscopic surveillance of HPS-associated GI malignancies.
错构瘤性息肉综合征（HPS）是一组异质性疾病，其特征是胃肠道（GI）内弥漫性错构瘤性息肉与胃肠道外表现并存。经典的 HPS 包括青少年息肉综合征、Peutz-Jeghers 综合征、PTEN 错构瘤肿瘤综合征和遗传性混合息肉综合征。与普通人群相比，HPS 患者的 GI 和胃肠道外恶性肿瘤风险更高，尽管其潜在机制尚不清楚，并且明显不同于经典腺癌和结肠炎相关恶性肿瘤的发生机制。在这篇综述中，我们旨在阐明 HPS 相关 GI 恶性肿瘤的风险、可能的机制和内镜监测。
