Present status and problems in diagnosis and treatment of Peutz-Jeghers syndrome

Abstract

Peutz-Jeghers syndrome (PJS) is an autosomal dominant inherited disease, which is caused by inactivating germline mutations in LKB1/STK11 and characterized by mucocutaneous pigmenta- tion, multiple gastrointestinal hamartomatous polyps and family history. Life-threatening complications include intestinal obstruction, an increasing risk for developing gastrointestinal malignancies and extraintestinal cancers. PJS more frequently happens to teenagers. Besides susceptibility to malignant cancer, it was charac- terized by complications associated with polyps, repeated hospitalizations and operations, as well as a high cost of medical cost, which especially brings harm to one-child family in China. This paper focuses on the diagnoses and treatments in PJS, such as clinical use of double-balloon enteroscopy and open surgery combined with intraoperative endoscopy. Also, COX-2 inhibi- tors and rapamycin for chemoprevention are introduced.