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

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