Peutz-Jeghers Syndrome

Excerpt

Peutz-Jeghers syndrome (PJS) is an autosomal dominant disorder characterized by the development of hamartomatous polyps in the gastrointestinal tract and distinctive mucocutaneous pigmented spots. The primary genetic defect associated with PJS is a germline mutation in the STK11 gene, which encodes a tumor suppressor involved in regulating cell growth. PJS presents with a range of clinical features, including gastrointestinal polyps, often located in the small intestine, and dark brown or blue-gray macules on the skin and mucous membranes, particularly around the lips and mouth.

If left untreated, individuals with PJS face an increased lifetime risk of developing various cancers, including those of the gastrointestinal tract, breast, pancreas, and reproductive organs. The lifetime risk of malignancy is significantly elevated, with cancers often developing at younger ages than the general population. Regular cancer screening and gastrointestinal surveillance are essential for managing PJS and reducing the risk of cancer-related complications. Additionally, gastrointestinal polyps can lead to significant complications requiring surgical intervention, such as obstruction and bleeding. Early diagnosis and management improve outcomes and quality of life for affected individuals.