Peutz-Jeghers综合征研究进展

摘要

Peutz-Jeghers综合征(Peutz-Jeghers syndrome,PJS)是一种以皮肤黏膜色素沉着、胃肠道多发息肉、家族遗传性为主要特征的常染色体显性遗传病,丝氨酸-苏氨酸激酶11/肝激酶B1(STK11/LKB1)基因突变被认为与该病的发生密切相关.PJS患者罹患肿瘤的风险较常人更高.目前针对PJS胃肠道息肉的治疗主要包括内镜及手术治疗.本文就近年来PJS的研究进展作一概述.%Peutz-Jeghers syndrome (PJS) is an autosomal dominant genetic disease which is characterized by mucocutaneous pigmentation,multiple gastrointestinal polyps and familial hereditary.The mutations of STK11/LKB1 gene were found closely related to the occurrence of the disease.Patients with PJS have a higher risk of cancer than common people.At present,the treatment of gastrointestinal polyps in patients with PJS mainly includes endoscopic and surgical treatment.This article briefly reviewed some research progress of PJS in recent years.