Peutz-Jeghers syndrome

Peutz-Jeghers syndrome A genetic condition that predisposes to an increased risk of developing cancer. The syndrome is characterized by frecklelike spots on the lips, mouth, and fingers and benign polyps in the intestines. Patients with Peutz-Jeghers syndrome are at increased risk for cancer of the esophagus, stomach, colon, rectum, breast, ovary, testis, and pancreas. The polyps may occur in any part of the gastrointestinal tract, but polyps in the jejunum (the middle portion of the small intestine) are a consistent feature of the disease. Peutz-Jeghers syndrome is inherited in an autosomal dominant manner and is due to mutation in a gene on chromosome 19 called STK11 (serine/threonine-protein kinase 11). Half of patients with Peutz-Jeghers syndrome have affected parents and the other half have new mutations in the STK11 gene. Also known as polyps-and-spots syndrome.