High cancer risk and increased mortality in patients with Peutz–Jeghers syndrome
van Lier MG, Westerman AM, Wagner A et al.
Peutz–Jeghers syndrome (PJS) is an autosomal dominant disease caused by germline mutations in the serine/threonine kinase-11 (STK11 or LKB1) gene and characterized by the development of hamartomatous polyps throughout the gastrointestinal (GI) tract plus mucocutaneous pigmentation. In contrast with other hamartomatous syndromes, in which polyps occur most commonly in the colon, the polyps in PJS are more frequently located in the small bowel. Patients with PJS have an increased risk of developing several types of malignancies. It has been estimated that approximately 57–68% of affected individuals will develop some type of GI cancer, mainly colon cancer (Clin Cancer Res 2006;12:3209–15).