【Abstract】ObjectiveTo facilitate a better understanding of the progress in the research, diagnosis and treatment of PeutzJeghers syndrome (PJS).MethodsAlmost 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.ResultsPJS 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. ConclusionThe 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.
