Peutz-Jeghers syndrome and management recommendations.
Peutz-Jeghers syndrome (PJS) is an autosomal dominant disease caused by germline mutation of the serine threonine kinase 11 and characterized by hamartomatous polyps in the gastrointestinal tract and mucocutaneous melanin pigmentation. Patients with PJS are at increased risk for common and unusual types of gastrointestinal and nongastrointestinal tumors. This review analyzes currently available literature and describes the clinical characteristics of PJS, assesses the risk of malignancy in this disorder, and delineates management and surveillance recommendations for affected individuals.
Giardiello
Francis M
FM
Department of Medicine, The Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA.
Trimbath
Jill D
JD
D000091162:AMP-Activated Protein Kinase Kinases; D006801:Humans; D009369:Neoplasms / Q000209:etiology; D010580:Peutz-Jeghers Syndrome / Q000209:etiology / Q000473:pathology* / Q000628:therapy*; D017346:Protein Serine-Threonine Kinases / Q000235:genetics; D012307:Risk Factors
D017346:Protein Serine-Threonine Kinases; C109790:STK11 protein, human; D000091162:AMP-Activated Protein Kinase Kinases