Peutz-Jeghers syndrome: Risks of a hereditary condition - A clinical review

Background: Peutz-Jeghers syndrome (PJS) is a rare autosomal-dominant disor der characterized by hamartomatous polyposis of the gastrointestinal tract and melanin pigmentation of the skin and mucous membranes. We review the cl inical features of PJS with special emphasis on the risks for its gene carr iers. Methods: Review of the literature. Results: Risks imposed by the pres ence of polyps in PJS patients include surgical emergencies like small bowe l intussusception, and chronic or acute bleeding from the polyps. As the po lyps in PJS are hamartomas, the disease had in the past always been thought not to have malignant potential. However, more and more reports suggest an association of PJS with both gastrointestinal and non-gastrointestinal tum ours. Whether these malignancies originate from the polyps is not clear, bu t the frequent occurrence of some rare extra-intestinal malignancies such a s tumours of the ovary (sex cord tumours with annular tubules), cervix (ade noma malignum) and testis (Sertoli cell tumours) indicates a general suscep tibility for the development of malignancies. The PJS gene, which was recen tly identified to encode for the serine threonine kinase STK11, is therefor e thought to act as a tumour-suppressor gene. Conclusions: PJS gene carrier s not only run risks of polyp-induced gastrointestinal complications, but a lso are at increased risk of developing cancer, both within and outside the gastrointestinal tract. As genetic identification of asymptomatic gene car riers in this relatively rare disorder becomes possible, surveillance and s creening protocols need to be developed for PJS patients and their relative s.