Giardiello Francis M, Trimbath Jill D
Department of Medicine, The Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA.
Clin Gastroenterol Hepatol. 2006 Apr;4(4):408-15. doi: 10.1016/j.cgh.2005.11.005.
Peutz-Jeghers syndrome (PJS) is an autosomal dominant disease caused by germline mutation of the serine threonine kinase 11 and characterized by hamartomatous polyps in the gastrointestinal tract and mucocutaneous melanin pigmentation. Patients with PJS are at increased risk for common and unusual types of gastrointestinal and nongastrointestinal tumors. This review analyzes currently available literature and describes the clinical characteristics of PJS, assesses the risk of malignancy in this disorder, and delineates management and surveillance recommendations for affected individuals.
佩-吉二氏综合征（PJS）是一种常染色体显性疾病，由丝氨酸苏氨酸激酶11的种系突变引起，其特征为胃肠道错构瘤性息肉和黏膜皮肤黑色素沉着。PJS患者患常见和罕见类型胃肠道及非胃肠道肿瘤的风险增加。本综述分析了当前可得的文献，描述了PJS的临床特征，评估了该疾病的恶性肿瘤风险，并阐述了针对受影响个体的管理和监测建议。
