黑斑息肉综合征的研究进展

目的介绍黑斑息肉综合征(PJS)的研究和临床诊治进展。方法对。PJS近几年国内、外的研究和临床诊治进展的文献作一概述。结果PJS是一种常染色体显性遗传病，以口周皮肤、唇、颊黏膜和指趾末端存在黑色素沉着和消化道存在多发性息肉为特征，其肠内、肠外组织和器官易发生癌症，是一种肿瘤易感综合征，其致病基因为19p上的STK11基因。结论PJS致病基因与肿瘤的发生和发展密切相关。PJS患者消化道内和消化道外组织和器官都容易发生恶变。

Advances in Research on Diagnosis and Treatment of Peutz-Jeghers Syndrome

Objective To facilitate a better understanding of the progress in the research, diagnosis and treatment of Peutz Jeghers syndrome (PJS).Methods Almost all the papers related to PJS from various magazines published in English and Chinese in recent years were reviewed. Current progresses in PJS research and related diagnosis and treatment were discussed in this review.Results PJS is a rare inherited disease with autosomal dominant trait, which is characterized by the presence of hamartomatous gastrointestinal polyps and mucocutaneous pigmentation of the lips, buccal mucosa, and digits. This syndrome is commonly complicated with intestinal obstruction, bleeding, or intussusception,and patients with this disease are at high risk for the development of both GI and extraintestinal malignancies. STK11 on chromosome 19p13.3 are responsible for most cases of PJS. The polyps of PJS tend to have a high incidence of malignant change, and the recurrence of malignancy after treatment is also high. Conclusion The STK11 has been identified as one of the main genes responsible for PJS and has close correlation with formation and development of tumors. Patients with PJS are at high risk for the development of both GI and extraintestinal malignancies.