Advances in the diagnosis and treatment of Peutz-Jeghers syndrome

Abstract

Peutz-Jeghers syndrome (PJS) is a rare syndrome characterized by multiple polyps of gastrointestinal tract and black spots of mucosa.The etiology is unclear yet.The main clinical manifestations are digestive tract symptoms and pigmentation of skin and mucosa.The diagnosis mainly depends on clinical manifestations and auxiliary examinations.Multiple gastrointestinal polyps can often be found by endoscopy.Gene testing can often detect mutations of serine/threonine kinase 11 (STK11) or liver kinase B1 (LKB1), which has high diagnostic accuracy.At present, PJS is rarely reported, and there is still a lack of systematic understanding.This paper reviews the incidence, clinical manifestations, auxiliary examinations, diagnosis, treatment and progress of PJS. Key words: Peutz-Jeghers Syndrome; Diagnosis and treatment