Peutz-Jeghers syndrome: presentation of a patient and literature review

Introduction: Colorectal cancer carcinogenesis is a complex, long-lasting multistep process. Patients with diff erent polyposis syndromes, including Peutz-Jeghers, have signifi cantly increased risk for diff erent types of cancer.Patients and methods: In this paper the authors are presenting a patient with Peutz- Jeghers syndrome, the clinical characteristics of this disease, molecular and genetic features, associations with carcinogenesis and screening possibilities. Th is syndrome, characterized by the development of hamartomatous polyps in the gastrointestinal tract and mucocutaneus hiperpigmentations, was fi rst described in a Dutch family in 1921 and is associated with increased risk of malignancy for the patient and his relatives. Conclusions: Early diagnosis of Peutz-Jeghers syndrome is important for the prevention and/or early detection of cancer.