Peutz-Jeghers syndrome: what has been known for 125 years of research? (review)

Abstract

Peutz-Jeghers syndrome (PJS) is an extremely rare autosomal dominant hereditary disease characterized by the growth of hamartomatous polyps in the gastrointestinal tract, mucocutaneous pigmented macules and an increased risk of malignant neoplasms of various localizations. In most cases the development of PJS is associated with the presence of a mutation in the STK11 gene, but not all patients have this mutation. This review presents the historical aspects of the first data on PJS, considers the clinical manifestations of the disease, current diagnostic methods, as well as recent knowledge about the genetic causes, about the risk of malignant neoplasms in patients with PJS, existing guidelines for screening and treatment of patients with PJS. However, the presence of a number of unresolved issues in genetics, monitoring and treatment indicates the need for further research.