Jiao Xuguo, Li Xiaolu, Qi Lingli, Wang Libo
Department of Gastroenterology, Children's Medical Center, the First Hospital of Jilin University, Changchun, Jilin 130021, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2025 May 10;42(5):633-638. doi: 10.3760/cma.j.cn511374-20241116-00594.
Gastrointestinal polyposis syndromes are primarily characterized by multiple polyps in the gastrointestinal tract, with their pathogenic mechanisms largely related to genetic factors and involving multiple signaling pathways. Adenomatous polyposis syndromes are mainly associated with APC gene variants, while some cases may arise from MUTYH gene variants. Peutz-Jeghers syndrome is primarily linked to STK11 gene variants. Juvenile polyposis syndrome is mainly associated with variants in the SMAD4 and BMPR1A genes. PTEN hamartoma tumor syndrome is predominantly caused by PTEN gene variants. Hereditary mixed polyposis syndrome is primarily related to variants of the GREM1 and BMPR1A genes. This article systematically summarizes the advances in genetic research on Gastrointestinal polyposis syndromes to enhance clinicians' understanding of these diseases and improve their diagnostic and therapeutic approaches.
胃肠道息肉综合征主要特征为胃肠道内有多个息肉，其发病机制很大程度上与遗传因素相关，涉及多个信号通路。腺瘤性息肉综合征主要与APC基因变异有关，而部分病例可能由MUTYH基因变异引起。黑斑息肉综合征主要与STK11基因变异相关。幼年性息肉综合征主要与SMAD4和BMPR1A基因变异有关。PTEN错构瘤肿瘤综合征主要由PTEN基因变异导致。遗传性混合性息肉综合征主要与GREM1和BMPR1A基因变异有关。本文系统总结了胃肠道息肉综合征的遗传学研究进展，以提高临床医生对这些疾病的认识，并改进其诊断和治疗方法。
