Japanese Clinical Guidelines 2020 for Diagnosis and Treatment of Peutz-Jeghers Syndrome in Children and Adults

Abstract

Peutz-Jeghers syndrome (PJS) is a rare disease characterized by the presence of hamartomatous polyposis throughout the gastrointestinal tract, except for the esophagus, along with characteristic mucocutaneous pigmentation. It is caused by germline pathogenic variants of the STK11 gene that exhibits an autosomal dominant mode of inheritance. PJS may be identified by multigene panel testing in patients with cancer. In this syndrome, there is persistent development of hamartomatous polyps in the small bowel. Such polyps may cause bleeding, intestinal obstruction, and intussusception as they grow larger. The initial gastrointestinal surveillance should be performed at about eight years of age even if no symptoms are present. Endoscopic polypectomy should be performed for small bowel polyps with a diameter of 10-15 mm or larger. Appropriate surveillance is required because patients with this syndrome may develop malignant tumors of different organs such as the digestive tracts, breasts, pancreas, uterus, ovaries, lungs, and testes. The present clinical guidelines explain the principles in the diagnosis and management of PJS, together with four clinical questions and corresponding recommendations. The guidelines have been designed to promote seamless implementation of accurate diagnosis and appropriate management of pediatric, adolescent and adult patients with the disease.